Canonical Allele Identifier: CA2254736353
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.29376277C= , CM000679.2:g.29376277C= GRCh38
NC_000017.10:g.27703295C= , CM000679.1:g.27703295C= GRCh37
NC_000017.9:g.24727421C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011525588.1:c.1008-5972G= XP_011523890.1:n.1008-5972G=