Canonical Allele Identifier: CA587286137
Gene:

Linked Data

dbSNP Id: rs1396064570
gnomAD v2: 9-25551050-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551052G>A , CM000671.2:g.25551052G>A GRCh38
NC_000009.11:g.25551050G>A , CM000671.1:g.25551050G>A GRCh37
NC_000009.10:g.25541050G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929525.1:n.50-480C>T
XR_929525.2:n.674-480C>T