Canonical Allele Identifier: CA51878240
Gene:

Linked Data

dbSNP Id: rs919060551
gnomAD v2: 2-88315457-G-A
gnomAD v3: 2-88015938-G-A
gnomAD v4: 2-88015938-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88015938G>A , CM000664.2:g.88015938G>A GRCh38
NC_000002.11:g.88315457G>A , CM000664.1:g.88315457G>A GRCh37
NC_000002.10:g.88096572G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.283G>A
XR_940336.3:n.283G>A