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