Canonical Allele Identifier: CA534498827
Gene:

Linked Data

dbSNP Id: rs1208078672
gnomAD v2: 2-88315566-G-A
gnomAD v3: 2-88016047-G-A
gnomAD v4: 2-88016047-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016047G>A , CM000664.2:g.88016047G>A GRCh38
NC_000002.11:g.88315566G>A , CM000664.1:g.88315566G>A GRCh37
NC_000002.10:g.88096681G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.392G>A
XR_940336.3:n.392G>A