Canonical Allele Identifier: CA73026637
Gene:

Linked Data

dbSNP Id: rs753566436
gnomAD v3: 3-39263174-C-G
gnomAD v4: 3-39263174-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39263174C>G , CM000665.2:g.39263174C>G GRCh38
NC_000003.11:g.39304665C>G , CM000665.1:g.39304665C>G GRCh37
NC_000003.10:g.39279669C>G NCBI36
NG_016362.1:g.23562G>C

Transcript Alleles

HGVS Amino-acid Change
XR_001740660.2:n.2691C>G