Canonical Allele Identifier: CA586058615
Gene:

Linked Data

dbSNP Id: rs921848587
gnomAD v2: 9-1787683-C-T
gnomAD v3: 9-1787683-C-T
gnomAD v4: 9-1787683-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.1787683C>T , CM000671.2:g.1787683C>T GRCh38
NC_000009.11:g.1787683C>T , CM000671.1:g.1787683C>T GRCh37
NC_000009.10:g.1777683C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746599.1:n.142+68771C>T