{{Rsnum
|rsid=121913019
|Gene=ERCC2
|Chromosome=19
|position=45354774
|Orientation=minus
|GMAF=0.0004591
|Gene_s=ERCC2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
}}{{omim
|id=126340
|rsnum=121913019
|variant=0005
}}{{ClinVar
|rsid=121913019
|Reversed=1
|FwdREF=A
|FwdALT=C
|REF=T
|ALT=G
|RSPOS=45858032
|CHROM=19
|GMAF=0.0005
|dbSNPBuildID=133
|SSR=0
|SAO=1
|VP=0x050060000000000016110100
|GENEINFO=ERCC2:2068
|GENE_NAME=ERCC2
|GENE_ID=2068
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.45858032T>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=126340.0005
|CLNSIG=5
|CLNCUI=C0268138
|CLNDBN=Xeroderma pigmentosum, group D
|Disease=Xeroderma pigmentosum
|CLNACC=RCV000018272.26
|Tags=RV;PM;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9995; 0.0004591
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT
|CLNDSDBID=NBK1397:C0268138:278730:68637004
|COMMON=0
}}