Canonical Allele Identifier: CA13958916
Gene:

Linked Data

dbSNP Id: rs8019546

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50857024G>A , CM000676.2:g.50857024G>A GRCh38
NC_000014.8:g.51323742G>A , CM000676.1:g.51323742G>A GRCh37
NC_000014.7:g.50393492G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_943848.1:n.282+1074C>T
XR_943848.2:n.643+1074C>T