{{Rsnum
|rsid=121434564
|Chromosome=1
|Orientation=plus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=EPB41
|position=28993490
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=EPB41
}}{{omim
|id=130500
|rsnum=121434564
|variant=0005
}}
{{omim
|id=130500
|rsnum=121434564
|variant=0006
}}{{ClinVar
|rsid=121434564
|Reversed=0
|FwdREF=T
|FwdALT=C,G
|REF=T
|ALT=C,G
|RSPOS=28993490
|CHROM=1
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050260000a05000002110100
|GENEINFO=EPB41:2035
|GENE_NAME=EPB41
|GENE_ID=2035
|WGT=1
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000001.11:g.28993490T>C; NC_000001.11:g.28993490T>G
|CLNSRC=ClinVar; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_203342.2:c.2T>C; 130500.0006; NM_203342.2:c.2T>G; 130500.0005
|CLNSIG=5
|CLNCUI=C2678497
|CLNDBN=Elliptocytosis 1; Protein 4.1 lille; Protein 4.1 madrid
|Disease=Elliptocytosis 1; Protein 4.1 lille; Protein 4.1 madrid
|CLNACC=RCV000018198.26; RCV000018199.26; RCV000018196.26; RCV000018197.22
|Tags=PM;S3D;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C2678497:611804
}}