Revel Score:
ENST00000457016
0.407
ENST00000257430 (MANE Select)
0.407
ENST00000508376
0.407
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841358C>A , CM000667.2:g.112841358C>A | GRCh38 |
| NC_000005.9:g.112177055C>A , CM000667.1:g.112177055C>A | GRCh37 |
| NC_000005.8:g.112204954C>A | NCBI36 |
| NG_008481.4:g.153838C>A , LRG_130:g.153838C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5818C>A | ENSP00000473355.2:p.Gln1940Lys | |
| ENST00000505350.2:c.*5770C>A | ENSP00000481752.1:n.*5770C>A | |
| ENST00000507379.6:c.5710C>A | ENSP00000423224.2:p.Gln1904Lys | |
| ENST00000509732.6:c.5764C>A | ENSP00000426541.2:p.Gln1922Lys | |
| ENST00000512211.7:c.5764C>A | ENSP00000423828.3:p.Gln1922Lys | |
| ENST00000257430.9:c.5764C>A MANE Select | ENSP00000257430.4:p.Gln1922Lys | |
| ENST00000257430.8:c.5764C>A | ENSP00000257430.4:p.Gln1922Lys | |
| ENST00000508376.6:c.5764C>A | ENSP00000427089.2:p.Gln1922Lys | |
| ENST00000508624.5:c.*5086C>A | ENSP00000424265.1:n.*5086C>A | |
| ENST00000520401.1:c.230+12386C>A | ||
| NM_000038.5:c.5764C>A | NP_000029.2:p.Gln1922Lys | |
| NM_001127510.2:c.5764C>A | NP_001120982.1:p.Gln1922Lys | |
| NM_001127511.2:c.5710C>A | NP_001120983.2:p.Gln1904Lys | |
| NM_001354895.1:c.5764C>A | NP_001341824.1:p.Gln1922Lys | |
| NM_001354896.1:c.5818C>A | NP_001341825.1:p.Gln1940Lys | |
| NM_001354897.1:c.5794C>A | NP_001341826.1:p.Gln1932Lys | |
| NM_001354898.1:c.5689C>A | NP_001341827.1:p.Gln1897Lys | |
| NM_001354899.1:c.5680C>A | NP_001341828.1:p.Gln1894Lys | |
| NM_001354900.1:c.5641C>A | NP_001341829.1:p.Gln1881Lys | |
| NM_001354901.1:c.5587C>A | NP_001341830.1:p.Gln1863Lys | |
| NM_001354902.1:c.5491C>A | NP_001341831.1:p.Gln1831Lys | |
| NM_001354903.1:c.5461C>A | NP_001341832.1:p.Gln1821Lys | |
| NM_001354904.1:c.5386C>A | NP_001341833.1:p.Gln1796Lys | |
| NM_001354905.1:c.5284C>A | NP_001341834.1:p.Gln1762Lys | |
| NM_001354906.1:c.4915C>A | NP_001341835.1:p.Gln1639Lys | |
| NM_000038.6:c.5764C>A MANE Select | NP_000029.2:p.Gln1922Lys | |
| NM_001127510.3:c.5764C>A | NP_001120982.1:p.Gln1922Lys | |
| NM_001127511.3:c.5710C>A | NP_001120983.2:p.Gln1904Lys | |
| NM_001354895.2:c.5764C>A | NP_001341824.1:p.Gln1922Lys | |
| NM_001354896.2:c.5818C>A | NP_001341825.1:p.Gln1940Lys | |
| NM_001354897.2:c.5794C>A | NP_001341826.1:p.Gln1932Lys | |
| NM_001354898.2:c.5689C>A | NP_001341827.1:p.Gln1897Lys | |
| NM_001354899.2:c.5680C>A | NP_001341828.1:p.Gln1894Lys | |
| NM_001354900.2:c.5641C>A | NP_001341829.1:p.Gln1881Lys | |
| NM_001354901.2:c.5587C>A | NP_001341830.1:p.Gln1863Lys | |
| NM_001354902.2:c.5491C>A | NP_001341831.1:p.Gln1831Lys | |
| NM_001354903.2:c.5461C>A | NP_001341832.1:p.Gln1821Lys | |
| NM_001354904.2:c.5386C>A | NP_001341833.1:p.Gln1796Lys | |
| NM_001354905.2:c.5284C>A | NP_001341834.1:p.Gln1762Lys | |
| NM_001354906.2:c.4915C>A | NP_001341835.1:p.Gln1639Lys |