Canonical Allele Identifier: CA847111434
Gene:

Linked Data

dbSNP Id: rs1380657474

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999203G>T , CM000670.2:g.126999203G>T GRCh38
NC_000008.10:g.128011448G>T , CM000670.1:g.128011448G>T GRCh37
NC_000008.9:g.128080630G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1301-7352G>T