Canonical Allele Identifier: CA12241234
Gene:

Linked Data

dbSNP Id: rs10943724
gnomAD v2: 6-81302805-C-A
gnomAD v3: 6-80593088-C-A
gnomAD v4: 6-80593088-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80593088C>A , CM000668.2:g.80593088C>A GRCh38
NC_000006.11:g.81302805C>A , CM000668.1:g.81302805C>A GRCh37
NC_000006.10:g.81359524C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_002956360.1:n.182+12683C>A