Canonical Allele Identifier: CA51878311
Gene:

Linked Data

dbSNP Id: rs182685926
gnomAD v2: 2-88315752-G-A
gnomAD v3: 2-88016233-G-A
gnomAD v4: 2-88016233-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016233G>A , CM000664.2:g.88016233G>A GRCh38
NC_000002.11:g.88315752G>A , CM000664.1:g.88315752G>A GRCh37
NC_000002.10:g.88096867G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.578G>A
XR_940336.3:n.578G>A