Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127401062A>G , CM000670.2:g.127401062A>G | GRCh38 |
| NC_000008.10:g.128413307A>G , CM000670.1:g.128413307A>G | GRCh37 |
| NC_000008.9:g.128482489A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_109834.1:n.664A>G (CCAT2) | |
| NR_117100.1:n.1176+19767T>C (CASC8) | |
| ENST00000645438.1:c.-559-13826A>G (POU5F1B) | ENSP00000495779.1:n.-559-13826A>G |