Canonical Allele Identifier: CA1818149187
Gene:

Linked Data

dbSNP Id: rs1814933651

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999305T>G , CM000670.2:g.126999305T>G GRCh38
NC_000008.10:g.128011550T>G , CM000670.1:g.128011550T>G GRCh37
NC_000008.9:g.128080732T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1301-7250T>G