Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127400847C>T , CM000670.2:g.127400847C>T | GRCh38 |
| NC_000008.10:g.128413092C>T , CM000670.1:g.128413092C>T | GRCh37 |
| NC_000008.9:g.128482274C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645438.1:c.-559-14041C>T (POU5F1B) | ENSP00000495779.1:n.-559-14041C>T | |
| NR_109834.1:n.449C>T (CCAT2) | ||
| NR_117100.1:n.1176+19982G>A (CASC8) |