Canonical Allele Identifier: CA188145845
Gene:

Linked Data

dbSNP Id: rs555290115
gnomAD v3: 9-1787441-G-A
gnomAD v4: 9-1787441-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.1787441G>A , CM000671.2:g.1787441G>A GRCh38
NC_000009.11:g.1787441G>A , CM000671.1:g.1787441G>A GRCh37
NC_000009.10:g.1777441G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746599.1:n.142+68529G>A