Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154038T= , CM000681.2:g.55154038T= | GRCh38 |
| NC_000019.9:g.55665406T= , CM000681.1:g.55665406T= | GRCh37 |
| NC_000019.8:g.60357218T= | NCBI36 |
| NG_007866.2:g.8695A= , LRG_432:g.8695A= | |
| NG_011829.2:g.201A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.541A= MANE Select | ENSP00000341838.5:p.Thr181= | |
| ENST00000665070.1:c.574A= | ENSP00000499482.1:p.Thr192= | |
| ENST00000344887.9:c.541A= | ENSP00000341838.5:p.Thr181= | |
| ENST00000585806.5:n.540A= | ||
| ENST00000588882.1:c.466A= | ENSP00000466729.1:p.Thr156= | |
| ENST00000589864.1:n.369A= | ||
| NM_000363.4:c.541A= , LRG_432t1:c.541A= | NP_000354.4:p.Thr181= | |
| NM_000363.5:c.541A= MANE Select | NP_000354.4:p.Thr181= |