Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127343206G>A , CM000670.2:g.127343206G>A | GRCh38 |
| NC_000008.10:g.128355452G>A , CM000670.1:g.128355452G>A | GRCh37 |
| NC_000008.9:g.128424634G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645438.1:c.-560+3771G>A (POU5F1B) | ENSP00000495779.1:n.-560+3771G>A | |
| NR_117099.1:n.457+3771G>A (CASC21) | ||
| NR_117100.1:n.1177-53146C>T (CASC8) |