Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151468220T= , CM000668.2:g.151468220T= | GRCh38 |
| NC_000006.11:g.151789355T= , CM000668.1:g.151789355T= | GRCh37 |
| NC_000006.10:g.151831048T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024573.3:c.559-123T= MANE Select | NP_078849.1:n.559-123T= |
| ENST00000367294.4:c.559-123T= MANE Select | ENSP00000356263.3:n.559-123T= |
| NM_001286562.1:c.202-123T= | NP_001273491.1:n.202-123T= |
| NM_001286562.2:c.202-123T= | NP_001273491.1:n.202-123T= |
| NM_024573.2:c.559-123T= | NP_078849.1:n.559-123T= |
| ENST00000367294.3:c.559-123T= | ENSP00000356263.3:n.559-123T= |
| ENST00000494826.1:c.*282-123T= | ENSP00000435882.1:n.*282-123T= |
| ENST00000545879.5:c.202-123T= | ENSP00000444121.1:n.202-123T= |