Canonical Allele Identifier: CA586058593
Gene:

Linked Data

dbSNP Id: rs1286362265
gnomAD v2: 9-1787599-T-C
gnomAD v3: 9-1787599-T-C
gnomAD v4: 9-1787599-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.1787599T>C , CM000671.2:g.1787599T>C GRCh38
NC_000009.11:g.1787599T>C , CM000671.1:g.1787599T>C GRCh37
NC_000009.10:g.1777599T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001746599.1:n.142+68687T>C