Revel Score:
ENST00000441478
0.749
ENST00000230124 (MANE Select)
0.749
ENST00000419951
0.749
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109791543A>T , CM000668.2:g.109791543A>T | GRCh38 |
| NC_000006.11:g.110112746A>T , CM000668.1:g.110112746A>T | GRCh37 |
| NC_000006.10:g.110219439A>T | NCBI36 |
| NG_007977.1:g.105323A>T , LRG_241:g.105323A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230124.8:c.2348A>T MANE Select | ENSP00000230124.4:p.Asp783Val | |
| ENST00000415980.2:c.854A>T | ENSP00000405660.2:p.Asp285Val | |
| ENST00000419951.2:n.696A>T | ||
| ENST00000674532.1:n.5544A>T | ||
| ENST00000674557.1:c.*1641A>T | ENSP00000501608.1:n.*1641A>T | |
| ENST00000674569.1:c.*1467A>T | ENSP00000502769.1:n.*1467A>T | |
| ENST00000674571.1:c.*1467A>T | ENSP00000501633.1:n.*1467A>T | |
| ENST00000674575.1:c.*1467A>T | ENSP00000502276.1:n.*1467A>T | |
| ENST00000674641.1:c.2003A>T | ENSP00000501609.1:p.Asp668Val | |
| ENST00000674644.1:c.1418A>T | ENSP00000502201.1:p.Asp473Val | |
| ENST00000674649.1:c.*2041A>T | ENSP00000501669.1:n.*2041A>T | |
| ENST00000674657.1:c.*1780A>T | ENSP00000502314.1:n.*1780A>T | |
| ENST00000674744.1:c.2342A>T | ENSP00000501661.1:p.Asp781Val | |
| ENST00000674778.1:c.*1566A>T | ENSP00000502742.1:n.*1566A>T | |
| ENST00000674783.1:c.*1263A>T | ENSP00000502755.1:n.*1263A>T | |
| ENST00000674884.1:c.2366A>T | ENSP00000502668.1:p.Asp789Val | |
| ENST00000674930.1:c.*1473A>T | ENSP00000502657.1:n.*1473A>T | |
| ENST00000674933.1:c.2117A>T | ENSP00000502376.1:p.Asp706Val | |
| ENST00000674956.1:c.*1562A>T | ENSP00000501904.1:n.*1562A>T | |
| ENST00000675004.1:c.*2300A>T | ENSP00000501868.1:n.*2300A>T | |
| ENST00000675009.1:c.*1732A>T | ENSP00000502098.1:n.*1732A>T | |
| ENST00000675096.1:c.2141A>T | ENSP00000502116.1:p.Asp714Val | |
| ENST00000675122.1:c.*455A>T | ENSP00000501810.1:n.*455A>T | |
| ENST00000675153.1:c.*1065A>T | ENSP00000501682.1:n.*1065A>T | |
| ENST00000675254.1:n.2797A>T | ||
| ENST00000675272.1:n.6646A>T | ||
| ENST00000675284.1:c.2348A>T | ENSP00000502758.1:p.Asp783Val | |
| ENST00000675301.1:n.1005A>T | ||
| ENST00000675311.1:c.*1550A>T | ENSP00000501961.1:n.*1550A>T | |
| ENST00000675426.1:c.*1416A>T | ENSP00000501819.1:n.*1416A>T | |
| ENST00000675523.1:c.2117A>T | ENSP00000502384.1:p.Asp706Val | |
| ENST00000675552.1:c.*4611A>T | ENSP00000502197.1:n.*4611A>T | |
| ENST00000675714.1:c.2348A>T | ENSP00000502561.1:p.Asp783Val | |
| ENST00000675726.1:c.2348A>T | ENSP00000502452.1:p.Asp783Val | |
| ENST00000675772.1:c.2348A>T | ENSP00000501678.1:p.Asp783Val | |
| ENST00000675831.1:c.1955A>T | ENSP00000502382.1:p.Asp652Val | |
| ENST00000675849.1:n.1970A>T | ||
| ENST00000675879.1:c.1193A>T | ||
| ENST00000675887.1:c.*1951A>T | ENSP00000502123.1:n.*1951A>T | |
| ENST00000675954.1:n.3681A>T | ||
| ENST00000675991.1:c.*3165A>T | ENSP00000502162.1:n.*3165A>T | |
| ENST00000675994.1:c.*1487A>T | ENSP00000502419.1:n.*1487A>T | |
| ENST00000676021.1:c.*926A>T | ENSP00000502746.1:n.*926A>T | |
| ENST00000676037.1:c.*275A>T | ENSP00000502181.1:n.*275A>T | |
| ENST00000676136.1:n.4995A>T | ||
| ENST00000676246.1:n.238A>T | ||
| ENST00000676442.1:c.2219A>T | ENSP00000502595.1:p.Asp740Val | |
| ENST00000230124.7:c.2348A>T | ENSP00000230124.3:p.Asp783Val | |
| ENST00000419951.1:c.269A>T | ENSP00000396566.1:p.Asp90Val | |
| NM_014845.5:c.2348A>T , LRG_241t1:c.2348A>T | NP_055660.1:p.Asp783Val | |
| XM_011536281.1:c.2285A>T | XP_011534583.1:p.Asp762Val | |
| XM_011536281.3:c.2285A>T | XP_011534583.1:p.Asp762Val | |
| XM_017011592.1:c.1799A>T | XP_016867081.1:p.Asp600Val | |
| XM_017011593.2:c.1418A>T | XP_016867082.1:p.Asp473Val | |
| NM_014845.6:c.2348A>T MANE Select | NP_055660.1:p.Asp783Val |