Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127323428G>C , CM000670.2:g.127323428G>C | GRCh38 |
| NC_000008.10:g.128335673G>C , CM000670.1:g.128335673G>C | GRCh37 |
| NC_000008.9:g.128404855G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_117099.1:n.302+1202G>C (CASC21) | |
| NR_117100.1:n.1177-33368C>G (CASC8) | |
| ENST00000645438.1:c.-715+1202G>C (POU5F1B) | ENSP00000495779.1:n.-715+1202G>C |