Canonical Allele Identifier: CA191701678
Gene:

Linked Data

dbSNP Id: rs569178528
gnomAD v2: 9-25551207-G-A
gnomAD v3: 9-25551209-G-A
gnomAD v4: 9-25551209-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.25551209G>A , CM000671.2:g.25551209G>A GRCh38
NC_000009.11:g.25551207G>A , CM000671.1:g.25551207G>A GRCh37
NC_000009.10:g.25541207G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929525.1:n.50-637C>T
XR_929525.2:n.674-637C>T