Canonical Allele Identifier: CA1817441727
Gene:

Linked Data

dbSNP Id: rs1812774999
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478372C>G , CM000670.2:g.125478372C>G GRCh38
NC_000008.10:g.126490614C>G , CM000670.1:g.126490614C>G GRCh37
NC_000008.9:g.126559796C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5058C>G
Search 100 bp 5'
Search 100 bp 3'