Canonical Allele Identifier: CA195165022
Gene:

Linked Data

dbSNP Id: rs13295552
gnomAD v2: 9-84522749-A-C
gnomAD v3: 9-81907834-A-C
gnomAD v4: 9-81907834-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.81907834A>C , CM000671.2:g.81907834A>C GRCh38
NC_000009.11:g.84522749A>C , CM000671.1:g.84522749A>C GRCh37
NC_000009.10:g.83712569A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_930000.1:n.250+748T>G
XR_001746773.2:n.865-19929T>G