Canonical Allele Identifier: CA587286148
Gene:

Linked Data

dbSNP Id: rs1285077663
gnomAD v2: 9-25551170-T-A
gnomAD v3: 9-25551172-T-A
gnomAD v4: 9-25551172-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551172T>A , CM000671.2:g.25551172T>A GRCh38
NC_000009.11:g.25551170T>A , CM000671.1:g.25551170T>A GRCh37
NC_000009.10:g.25541170T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929525.1:n.50-600A>T
XR_929525.2:n.674-600A>T