Canonical Allele Identifier: CA2718231506
Gene:

Linked Data

dbSNP Id: rs2130168260

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999624C>T , CM000670.2:g.126999624C>T GRCh38
NC_000008.10:g.128011869C>T , CM000670.1:g.128011869C>T GRCh37
NC_000008.9:g.128081051C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001746076.2:n.1301-6931C>T