Canonical Allele Identifier: CA51878359
Gene:

Linked Data

dbSNP Id: rs531792293
gnomAD v2: 2-88315860-G-A
gnomAD v3: 2-88016341-G-A
gnomAD v4: 2-88016341-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88016341G>A , CM000664.2:g.88016341G>A GRCh38
NC_000002.11:g.88315860G>A , CM000664.1:g.88315860G>A GRCh37
NC_000002.10:g.88096975G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.686G>A
XR_940336.3:n.686G>A