Canonical Allele Identifier: CA656295990
Gene:

Linked Data

dbSNP Id: rs1460035539

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108604C>T , CM000678.2:g.49108604C>T GRCh38
NC_000016.9:g.49142515C>T , CM000678.1:g.49142515C>T GRCh37
NC_000016.8:g.47700016C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1340G>A
XR_001752138.2:n.591+5372G>A
XR_933517.2:n.810+1340G>A