| HGVS | Genome Assembly | 
|---|---|
| NC_000008.11:g.127397266G>T , CM000670.2:g.127397266G>T | GRCh38 | 
| NC_000008.10:g.128409511G>T , CM000670.1:g.128409511G>T | GRCh37 | 
| NC_000008.9:g.128478693G>T | NCBI36 | 
| HGVS | Amino-acid Change | 
|---|---|
| NR_117100.1:n.1176+23563C>A (CASC8) | |
| ENST00000645438.1:c.-559-17622G>T (POU5F1B) | ENSP00000495779.1:n.-559-17622G>T |