Canonical Allele Identifier: CA188145871
Gene:

Linked Data

dbSNP Id: rs970255182
gnomAD v3: 9-1787594-C-G
gnomAD v4: 9-1787594-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.1787594C>G , CM000671.2:g.1787594C>G GRCh38
NC_000009.11:g.1787594C>G , CM000671.1:g.1787594C>G GRCh37
NC_000009.10:g.1777594C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001746599.1:n.142+68682C>G