Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74421796G= , CM000685.2:g.74421796G= | GRCh38 |
| NC_000023.10:g.73641631G= , CM000685.1:g.73641631G= | GRCh37 |
| NC_000023.9:g.73558356G= | NCBI36 |
| NG_011641.1:g.5547G= | |
| NG_011641.2:g.5547G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.159G= MANE Select | ENSP00000465734.1:p.Pro53= | |
| ENST00000587091.5:c.159G= | ENSP00000465734.1:p.Pro53= | |
| NM_006517.4:c.159G= | NP_006508.2:p.Pro53= | |
| XM_005262294.1:c.159G= | XP_005262351.1:p.Pro53= | |
| XM_011531015.1:c.159G= | XP_011529317.1:p.Pro53= | |
| NM_006517.5:c.159G= MANE Select | NP_006508.2:p.Pro53= |