Canonical Allele Identifier: CA188145855
Gene:

Linked Data

dbSNP Id: rs1042924460
gnomAD v2: 9-1787495-G-A
gnomAD v3: 9-1787495-G-A
gnomAD v4: 9-1787495-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.1787495G>A , CM000671.2:g.1787495G>A GRCh38
NC_000009.11:g.1787495G>A , CM000671.1:g.1787495G>A GRCh37
NC_000009.10:g.1777495G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746599.1:n.142+68583G>A