Canonical Allele Identifier: CA844313466
Gene:

Linked Data

dbSNP Id: rs1226949133
gnomAD v3: 7-97388603-G-A
gnomAD v4: 7-97388603-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.97388603G>A , CM000669.2:g.97388603G>A GRCh38
NC_000007.13:g.97017915G>A , CM000669.1:g.97017915G>A GRCh37
NC_000007.12:g.96855851G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001745293.1:n.127-59956C>T