Canonical Allele Identifier: CA188145862
Gene:

Linked Data

dbSNP Id: rs891201947
gnomAD v2: 9-1787533-G-A
gnomAD v3: 9-1787533-G-A
gnomAD v4: 9-1787533-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.1787533G>A , CM000671.2:g.1787533G>A GRCh38
NC_000009.11:g.1787533G>A , CM000671.1:g.1787533G>A GRCh37
NC_000009.10:g.1777533G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746599.1:n.142+68621G>A