Canonical Allele Identifier: CA51878249
Gene:

Linked Data

dbSNP Id: rs137942127
gnomAD v2: 2-88315530-G-A
gnomAD v3: 2-88016011-G-A
gnomAD v4: 2-88016011-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016011G>A , CM000664.2:g.88016011G>A GRCh38
NC_000002.11:g.88315530G>A , CM000664.1:g.88315530G>A GRCh37
NC_000002.10:g.88096645G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.356G>A
XR_940336.3:n.356G>A