Canonical Allele Identifier: CA534498835
Gene:

Linked Data

dbSNP Id: rs1481621783
gnomAD v2: 2-88315590-G-A
gnomAD v3: 2-88016071-G-A
gnomAD v4: 2-88016071-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016071G>A , CM000664.2:g.88016071G>A GRCh38
NC_000002.11:g.88315590G>A , CM000664.1:g.88315590G>A GRCh37
NC_000002.10:g.88096705G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.416G>A
XR_940336.3:n.416G>A