Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127343282C>A , CM000670.2:g.127343282C>A | GRCh38 |
| NC_000008.10:g.128355528C>A , CM000670.1:g.128355528C>A | GRCh37 |
| NC_000008.9:g.128424710C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645438.1:c.-560+3847C>A (POU5F1B) | ENSP00000495779.1:n.-560+3847C>A | |
| NR_117099.1:n.457+3847C>A (CASC21) | ||
| NR_117100.1:n.1177-53222G>T (CASC8) |