Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127343372A>G , CM000670.2:g.127343372A>G | GRCh38 |
| NC_000008.10:g.128355618A>G , CM000670.1:g.128355618A>G | GRCh37 |
| NC_000008.9:g.128424800A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_117099.1:n.457+3937A>G (CASC21) | |
| NR_117100.1:n.1177-53312T>C (CASC8) | |
| ENST00000645438.1:c.-560+3937A>G (POU5F1B) | ENSP00000495779.1:n.-560+3937A>G |