Canonical Allele Identifier: CA2834437766
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.126002800G>T , CM000667.2:g.126002800G>T GRCh38
NC_000005.9:g.125338493G>T , CM000667.1:g.125338493G>T GRCh37
NC_000005.8:g.125366392G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948737.1:n.565+3540C>A
XR_948738.1:n.497+5740C>A