Canonical Allele Identifier: CA1033291176
Gene:

Linked Data

dbSNP Id: rs12714207
gnomAD v3: 2-88016274-C-A
gnomAD v4: 2-88016274-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016274C>A , CM000664.2:g.88016274C>A GRCh38
NC_000002.11:g.88315793C>A , CM000664.1:g.88315793C>A GRCh37
NC_000002.10:g.88096908C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_940335.3:n.619C>A
XR_940336.3:n.619C>A