Revel Score:
ENST00000413590
0.151
ENST00000337432 (MANE Select)
0.121
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58732525C>A , CM000679.2:g.58732525C>A | GRCh38 |
| NC_000017.10:g.56809886C>A , CM000679.1:g.56809886C>A | GRCh37 |
| NC_000017.9:g.54164885C>A | NCBI36 |
| NG_023199.1:g.44924C>A , LRG_314:g.44924C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.656C>A | ENSP00000464056.2:p.Thr219Lys | |
| ENST00000697680.1:c.*1971C>A | ENSP00000513392.1:n.*1971C>A | |
| ENST00000697681.1:c.*2168C>A | ENSP00000513393.1:n.*2168C>A | |
| ENST00000697683.1:c.*1943C>A | ENSP00000513395.1:n.*1943C>A | |
| ENST00000697685.1:c.*1704C>A | ENSP00000513396.1:n.*1704C>A | |
| ENST00000697686.1:c.778C>A | ENSP00000513397.1:p.Gln260Lys | |
| ENST00000697689.1:c.*1441-1593C>A | ENSP00000513398.1:n.*1441-1593C>A | |
| ENST00000697690.1:c.905-1593C>A | ENSP00000513399.1:n.905-1593C>A | |
| ENST00000697691.1:c.*979C>A | ENSP00000513400.1:n.*979C>A | |
| ENST00000697692.1:c.*1019C>A | ENSP00000513401.1:n.*1019C>A | |
| ENST00000697694.1:c.656C>A | ENSP00000513402.1:p.Thr219Lys | |
| ENST00000697695.1:n.1614C>A | ||
| ENST00000337432.9:c.1007C>A MANE Select | ENSP00000336701.4:p.Thr336Lys | |
| ENST00000337432.8:c.1007C>A | ENSP00000336701.4:p.Thr336Lys | |
| ENST00000413590.5:c.648C>A | ||
| ENST00000461706.1:n.194C>A | ||
| ENST00000475762.5:c.*1643C>A | ENSP00000432421.1:n.*1643C>A | |
| ENST00000482007.5:c.*435C>A | ENSP00000433332.1:n.*435C>A | |
| ENST00000487525.5:c.*583C>A | ENSP00000431637.1:n.*583C>A | |
| ENST00000578151.1:n.240-1593C>A | ||
| ENST00000581221.5:n.522C>A | ||
| ENST00000583539.5:c.1007C>A | ENSP00000463121.1:p.Thr336Lys | |
| ENST00000584804.1:c.241C>A | ENSP00000463658.1:p.Gln81Lys | |
| NM_058216.2:c.1007C>A | NP_478123.1:p.Thr336Lys | |
| NR_103872.1:n.911C>A | ||
| XM_006722001.2:c.1010C>A | XP_006722064.1:p.Thr337Lys | |
| XM_006722002.2:c.946C>A | XP_006722065.1:p.Gln316Lys | |
| XM_006722004.2:c.659C>A | XP_006722067.1:p.Thr220Lys | |
| XM_006722005.2:c.659C>A | XP_006722068.1:p.Thr220Lys | |
| XM_011525092.1:c.659C>A | XP_011523394.1:p.Thr220Lys | |
| XM_011525093.1:c.659C>A | XP_011523395.1:p.Thr220Lys | |
| XM_011525094.1:c.659C>A | XP_011523396.1:p.Thr220Lys | |
| XR_934513.1:n.1225C>A | ||
| XR_934514.1:n.1228C>A | ||
| XR_934886.1:n.149+5546G>T | ||
| XM_006722001.4:c.1010C>A | XP_006722064.1:p.Thr337Lys | |
| XM_006722002.4:c.946C>A | XP_006722065.1:p.Gln316Lys | |
| XM_006722004.3:c.659C>A | XP_006722067.1:p.Thr220Lys | |
| XM_006722005.3:c.659C>A | XP_006722068.1:p.Thr220Lys | |
| XM_011525092.2:c.659C>A | XP_011523394.1:p.Thr220Lys | |
| XM_011525093.2:c.659C>A | XP_011523395.1:p.Thr220Lys | |
| XM_011525094.2:c.659C>A | XP_011523396.1:p.Thr220Lys | |
| XM_017024914.1:c.656C>A | XP_016880403.1:p.Thr219Lys | |
| XM_017024915.1:c.656C>A | XP_016880404.1:p.Thr219Lys | |
| XM_017024916.1:c.656C>A | XP_016880405.1:p.Thr219Lys | |
| XM_017024917.1:c.656C>A | XP_016880406.1:p.Thr219Lys | |
| XM_017024918.2:c.656C>A | XP_016880407.1:p.Thr219Lys | |
| XM_017024919.1:c.595C>A | XP_016880408.1:p.Gln199Lys | |
| XR_934513.3:n.1656C>A | ||
| XR_934514.3:n.1659C>A | ||
| XR_934886.2:n.149+5546G>T | ||
| NM_058216.3:c.1007C>A MANE Select | NP_478123.1:p.Thr336Lys | |
| NR_103872.2:n.882C>A |