Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127400975A>C , CM000670.2:g.127400975A>C | GRCh38 |
| NC_000008.10:g.128413220A>C , CM000670.1:g.128413220A>C | GRCh37 |
| NC_000008.9:g.128482402A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645438.1:c.-559-13913A>C (POU5F1B) | ENSP00000495779.1:n.-559-13913A>C | |
| NR_109834.1:n.577A>C (CCAT2) | ||
| NR_117100.1:n.1176+19854T>G (CASC8) |