Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154151G= , CM000681.2:g.55154151G= | GRCh38 |
| NC_000019.9:g.55665519G= , CM000681.1:g.55665519G= | GRCh37 |
| NC_000019.8:g.60357331G= | NCBI36 |
| NG_007866.2:g.8582C= , LRG_432:g.8582C= | |
| NG_011829.2:g.88C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000363.5:c.428C= MANE Select | NP_000354.4:p.Thr143= |
| ENST00000344887.10:c.428C= MANE Select | ENSP00000341838.5:p.Thr143= |
| NM_000363.4:c.428C= , LRG_432t1:c.428C= | NP_000354.4:p.Thr143= |
| ENST00000344887.9:c.428C= | ENSP00000341838.5:p.Thr143= |
| ENST00000585806.5:n.427C= | |
| ENST00000586669.5:n.436C= | |
| ENST00000588882.1:c.353C= | ENSP00000466729.1:p.Thr118= |
| ENST00000589864.1:n.256C= | |
| ENST00000665070.1:c.461C= | ENSP00000499482.1:p.Thr154= |