Canonical Allele Identifier: CA2047190518
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.76004982C= , CM000674.2:g.76004982C= GRCh38
NC_000012.11:g.76398762C= , CM000674.1:g.76398762C= GRCh37
NC_000012.10:g.74685029C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_945110.1:n.311+1207G=
XR_001749218.2:n.402+1207G=
XR_945110.3:n.402+1207G=