Canonical Allele Identifier: CA12959476
Gene:

Linked Data

dbSNP Id: rs2151145
gnomAD v2: 9-82345881-G-A
gnomAD v3: 9-79730966-G-A
gnomAD v4: 9-79730966-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.79730966G>A , CM000671.2:g.79730966G>A GRCh38
NC_000009.11:g.82345881G>A , CM000671.1:g.82345881G>A GRCh37
NC_000009.10:g.81535701G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_929980.1:n.1019+654G>A