Canonical Allele Identifier: CA2199721319
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.99817230T= , CM000677.2:g.99817230T= GRCh38
NC_000015.9:g.100357435T= , CM000677.1:g.100357435T= GRCh37
NC_000015.8:g.98174958T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_135737.1:n.346+4144T=
XR_932717.1:n.408+4144T=
XR_932718.1:n.408+4144T=
XR_932719.1:n.514+8928T=
XR_932720.1:n.409-1708T=