Canonical Allele Identifier: CA188145833
Gene:

Linked Data

dbSNP Id: rs779288430
gnomAD v2: 9-1787383-A-G
gnomAD v3: 9-1787383-A-G
gnomAD v4: 9-1787383-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.1787383A>G , CM000671.2:g.1787383A>G GRCh38
NC_000009.11:g.1787383A>G , CM000671.1:g.1787383A>G GRCh37
NC_000009.10:g.1777383A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746599.1:n.142+68471A>G