Canonical Allele Identifier: CA13129995
Gene:

Linked Data

dbSNP Id: rs10963269
gnomAD v2: 9-1787608-C-G
gnomAD v3: 9-1787608-C-G
gnomAD v4: 9-1787608-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.1787608C>G , CM000671.2:g.1787608C>G GRCh38
NC_000009.11:g.1787608C>G , CM000671.1:g.1787608C>G GRCh37
NC_000009.10:g.1777608C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001746599.1:n.142+68696C>G