Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127400994T>C , CM000670.2:g.127400994T>C | GRCh38 |
| NC_000008.10:g.128413239T>C , CM000670.1:g.128413239T>C | GRCh37 |
| NC_000008.9:g.128482421T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_109834.1:n.596T>C (CCAT2) | |
| NR_117100.1:n.1176+19835A>G (CASC8) | |
| ENST00000645438.1:c.-559-13894T>C (POU5F1B) | ENSP00000495779.1:n.-559-13894T>C |