Canonical Allele Identifier: CA163625055
Gene:

Linked Data

dbSNP Id: rs574872920
gnomAD v2: 7-97017905-G-T
gnomAD v3: 7-97388593-G-T
gnomAD v4: 7-97388593-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.97388593G>T , CM000669.2:g.97388593G>T GRCh38
NC_000007.13:g.97017905G>T , CM000669.1:g.97017905G>T GRCh37
NC_000007.12:g.96855841G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745293.1:n.127-59946C>A