Canonical Allele Identifier: CA14356916
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.52313907T>G , CM000678.2:g.52313907T>G GRCh38
NC_000016.9:g.52347819T>G , CM000678.1:g.52347819T>G GRCh37
NC_000016.8:g.50905320T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001752184.1:n.537-14041A>C
XR_001752185.1:n.504-14041A>C
XR_001752186.1:n.399-14041A>C