Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154150G= , CM000681.2:g.55154150G= | GRCh38 |
| NC_000019.9:g.55665518G= , CM000681.1:g.55665518G= | GRCh37 |
| NC_000019.8:g.60357330G= | NCBI36 |
| NG_007866.2:g.8583C= , LRG_432:g.8583C= | |
| NG_011829.2:g.89C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.429C= MANE Select | ENSP00000341838.5:p.Thr143= | |
| ENST00000665070.1:c.462C= | ENSP00000499482.1:p.Thr154= | |
| ENST00000344887.9:c.429C= | ENSP00000341838.5:p.Thr143= | |
| ENST00000585806.5:n.428C= | ||
| ENST00000586669.5:n.437C= | ||
| ENST00000588882.1:c.354C= | ENSP00000466729.1:p.Thr118= | |
| ENST00000589864.1:n.257C= | ||
| NM_000363.4:c.429C= , LRG_432t1:c.429C= | NP_000354.4:p.Thr143= | |
| NM_000363.5:c.429C= MANE Select | NP_000354.4:p.Thr143= |