Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154152T= , CM000681.2:g.55154152T= | GRCh38 |
| NC_000019.9:g.55665520T= , CM000681.1:g.55665520T= | GRCh37 |
| NC_000019.8:g.60357332T= | NCBI36 |
| NG_007866.2:g.8581A= , LRG_432:g.8581A= | |
| NG_011829.2:g.87A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.427A= MANE Select | ENSP00000341838.5:p.Thr143= | |
| ENST00000665070.1:c.460A= | ENSP00000499482.1:p.Thr154= | |
| ENST00000344887.9:c.427A= | ENSP00000341838.5:p.Thr143= | |
| ENST00000585806.5:n.426A= | ||
| ENST00000586669.5:n.435A= | ||
| ENST00000588882.1:c.352A= | ENSP00000466729.1:p.Thr118= | |
| ENST00000589864.1:n.255A= | ||
| NM_000363.4:c.427A= , LRG_432t1:c.427A= | NP_000354.4:p.Thr143= | |
| NM_000363.5:c.427A= MANE Select | NP_000354.4:p.Thr143= |