Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42957983T= , CM000677.2:g.42957983T= | GRCh38 |
| NC_000015.9:g.43250181T= , CM000677.1:g.43250181T= | GRCh37 |
| NC_000015.8:g.41037473T= | NCBI36 |
| NG_012182.1:g.153106A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.4835+30A= MANE Select | ENSP00000290650.4:n.4835+30A= | |
| ENST00000290650.8:c.4835+30A= | ENSP00000290650.4:n.4835+30A= | |
| NM_174916.2:c.4835+30A= | NP_777576.1:n.4835+30A= | |
| NM_174916.3:c.4835+30A= MANE Select | NP_777576.1:n.4835+30A= |