Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127414148G>C , CM000670.2:g.127414148G>C | GRCh38 |
| NC_000008.10:g.128426393G>C , CM000670.1:g.128426393G>C | GRCh37 |
| NC_000008.9:g.128495575G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465342.4:c.-559-740G>C (POU5F1B) | ENSP00000419298.2:n.-559-740G>C | |
| ENST00000645438.1:c.-559-740G>C (POU5F1B) | ENSP00000495779.1:n.-559-740G>C | |
| NR_117100.1:n.1176+6681C>G (CASC8) | ||
| NM_001395745.1:c.-1299G>C (POU5F1B) | NP_001382674.1:n.-1299G>C |