Canonical Allele Identifier: CA613876316
Gene:

Linked Data

dbSNP Id: rs985777124

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50856885C>T , CM000676.2:g.50856885C>T GRCh38
NC_000014.8:g.51323603C>T , CM000676.1:g.51323603C>T GRCh37
NC_000014.7:g.50393353C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_943848.1:n.282+1213G>A
XR_943848.2:n.643+1213G>A