Canonical Allele Identifier: CA1333019282
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227644742C= , CM000664.2:g.227644742C= GRCh38
NC_000002.11:g.228509458C= , CM000664.1:g.228509458C= GRCh37
NC_000002.10:g.228217702C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000509872.1:n.805-2466G=