Canonical Allele Identifier: CA1817441644
Gene:

Linked Data

dbSNP Id: rs1169788087

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478300C>G , CM000670.2:g.125478300C>G GRCh38
NC_000008.10:g.126490542C>G , CM000670.1:g.126490542C>G GRCh37
NC_000008.9:g.126559724C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+4986C>G