Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38356625C= , CM000677.2:g.38356625C= | GRCh38 |
| NC_000015.9:g.38648826C= , CM000677.1:g.38648826C= | GRCh37 |
| NC_000015.8:g.36436118C= | NCBI36 |
| NG_008980.1:g.108775C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.*4961C= MANE Select | ENSP00000299084.4:n.*4961C= | |
| ENST00000299084.8:c.*4961C= | ENSP00000299084.4:n.*4961C= | |
| NM_152594.2:c.*4961C= | NP_689807.1:n.*4961C= | |
| XM_005254202.3:c.*4961C= | XP_005254259.1:n.*4961C= | |
| XM_011521289.3:c.*4961C= | XP_011519591.1:n.*4961C= | |
| NM_152594.3:c.*4961C= MANE Select | NP_689807.1:n.*4961C= |