Canonical Allele Identifier: CA1122483557
Gene:

Linked Data

dbSNP Id: rs1819675601
gnomAD v3: 9-25551354-G-A
gnomAD v4: 9-25551354-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551354G>A , CM000671.2:g.25551354G>A GRCh38
NC_000009.11:g.25551352G>A , CM000671.1:g.25551352G>A GRCh37
NC_000009.10:g.25541352G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929525.1:n.50-782C>T
XR_929525.2:n.674-782C>T