Canonical Allele Identifier: CA2782088790
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.125478874C>T , CM000670.2:g.125478874C>T GRCh38
NC_000008.10:g.126491116C>T , CM000670.1:g.126491116C>T GRCh37
NC_000008.9:g.126560298C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_928628.1:n.256+5560C>T