Canonical Allele Identifier: CA51878239
Gene:

Linked Data

dbSNP Id: rs538175247
gnomAD v2: 2-88315455-G-C
gnomAD v3: 2-88015936-G-C
gnomAD v4: 2-88015936-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88015936G>C , CM000664.2:g.88015936G>C GRCh38
NC_000002.11:g.88315455G>C , CM000664.1:g.88315455G>C GRCh37
NC_000002.10:g.88096570G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940335.3:n.281G>C
XR_940336.3:n.281G>C