Canonical Allele Identifier: CA11590495
Gene:

Linked Data

dbSNP Id: rs10490770
gnomAD v2: 3-45864732-T-C
gnomAD v3: 3-45823240-T-C
gnomAD v4: 3-45823240-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.45823240T>C , CM000665.2:g.45823240T>C GRCh38
NC_000003.11:g.45864732T>C , CM000665.1:g.45864732T>C GRCh37
NC_000003.10:g.45839736T>C NCBI36
NG_033917.1:g.97485A>G

Transcript Alleles

HGVS Amino-acid change
XR_001740681.1:n.1012-3451T>C