Canonical Allele Identifier: CA2037313671
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.54196315C= , CM000674.2:g.54196315C= GRCh38
NC_000012.11:g.54590099C= , CM000674.1:g.54590099C= GRCh37
NC_000012.10:g.52876366C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_944983.1:n.367-4145C=
XR_944984.1:n.194-4145C=