Canonical Allele Identifier: CA246212003
Gene:

Linked Data

dbSNP Id: rs950579749

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.131529509G>T , CM000674.2:g.131529509G>T GRCh38
NC_000012.11:g.132014054G>T , CM000674.1:g.132014054G>T GRCh37
NC_000012.10:g.130580007G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945564.1:n.1076+266C>A
XR_001749407.2:n.1067+266C>A