Canonical Allele Identifier: CA280996463
Gene:

Linked Data

dbSNP Id: rs998183554

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108667C>T , CM000678.2:g.49108667C>T GRCh38
NC_000016.9:g.49142578C>T , CM000678.1:g.49142578C>T GRCh37
NC_000016.8:g.47700079C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1277G>A
XR_001752138.2:n.591+5309G>A
XR_933517.2:n.810+1277G>A