Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151851T>A , CM000681.2:g.55151851T>A | GRCh38 |
| NC_000019.9:g.55663219T>A , CM000681.1:g.55663219T>A | GRCh37 |
| NC_000019.8:g.60355031T>A | NCBI36 |
| NG_007866.2:g.10882A>T , LRG_432:g.10882A>T | |
| NG_011829.2:g.2388A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000363.5:c.616A>T MANE Select | NP_000354.4:p.Lys206Ter |
| ENST00000344887.10:c.616A>T MANE Select | ENSP00000341838.5:p.Lys206Ter |
| NM_000363.4:c.616A>T , LRG_432t1:c.616A>T | NP_000354.4:p.Lys206Ter |
| ENST00000344887.9:c.616A>T | ENSP00000341838.5:p.Lys206Ter |
| ENST00000585806.5:n.615A>T | |
| ENST00000588882.1:c.541A>T | ENSP00000466729.1:p.Lys181Ter |
| ENST00000589864.1:n.444A>T | |
| ENST00000665070.1:c.649A>T | ENSP00000499482.1:p.Lys217Ter |