Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189984566G>A , CM000665.2:g.189984566G>A | GRCh38 |
| NC_000003.11:g.189702355G>A , CM000665.1:g.189702355G>A | GRCh37 |
| NC_000003.10:g.191185049G>A | NCBI36 |
| NG_031929.1:g.142872C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018192.4:c.1213C>T MANE Select | NP_060662.2:p.Arg405Ter |
| ENST00000319332.10:c.1213C>T MANE Select | ENSP00000316881.5:p.Arg405Ter |
| NM_001134418.1:c.670C>T | NP_001127890.1:p.Arg224Ter |
| NM_001134418.2:c.670C>T | NP_001127890.1:p.Arg224Ter |
| NM_018192.3:c.1213C>T | NP_060662.2:p.Arg405Ter |
| ENST00000319332.9:c.1213C>T | ENSP00000316881.5:p.Arg405Ter |
| ENST00000427335.6:c.670C>T | ENSP00000408947.2:p.Arg224Ter |
| ENST00000470925.1:n.354C>T | |
| XM_011512955.1:c.670C>T | XP_011511257.1:p.Arg224Ter |