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