Canonical Allele Identifier: CA1120500483
Gene:

Linked Data

dbSNP Id: rs1817922162
gnomAD v3: 9-1787662-T-A
gnomAD v4: 9-1787662-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.1787662T>A , CM000671.2:g.1787662T>A GRCh38
NC_000009.11:g.1787662T>A , CM000671.1:g.1787662T>A GRCh37
NC_000009.10:g.1777662T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746599.1:n.142+68750T>A
Search 100 bp 5'
Search 100 bp 3'