Canonical Allele Identifier: CA214693406
Gene:

Linked Data

dbSNP Id: rs1472750

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113475355T>C , CM000672.2:g.113475355T>C GRCh38
NC_000010.10:g.115235114T>C , CM000672.1:g.115235114T>C GRCh37
NC_000010.9:g.115225104T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001747590.2:n.6093-1219T>C