Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127401037C= , CM000670.2:g.127401037C= | GRCh38 |
| NC_000008.10:g.128413282C= , CM000670.1:g.128413282C= | GRCh37 |
| NC_000008.9:g.128482464C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_109834.1:n.639C= (CCAT2) | |
| NR_117100.1:n.1176+19792G= (CASC8) | |
| ENST00000645438.1:c.-559-13851C= (POU5F1B) | ENSP00000495779.1:n.-559-13851C= |