Canonical Allele Identifier: CA2221608999
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.50109069C= , CM000678.2:g.50109069C= GRCh38
NC_000016.9:g.50142980C= , CM000678.1:g.50142980C= GRCh37
NC_000016.8:g.48700481C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011523490.1:c.115-2417G= XP_011521792.1:n.115-2417G=