Revel Score:
ENST00000260766
0.392
ENST00000371380 (MANE Select)
0.392
ENST00000371385
0.392
ENST00000371375
0.392
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298409A>T , CM000672.2:g.94298409A>T | GRCh38 |
| NC_000010.10:g.96058166A>T , CM000672.1:g.96058166A>T | GRCh37 |
| NC_000010.9:g.96048156A>T | NCBI36 |
| NG_015799.1:g.309421A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.4274A>T | ENSP00000360426.1:p.Glu1425Val | |
| ENST00000685253.1:c.*1741A>T | ENSP00000509405.1:n.*1741A>T | |
| ENST00000685889.1:n.1933A>T | ||
| ENST00000686807.1:n.617A>T | ||
| ENST00000686954.1:c.*482A>T | ENSP00000508416.1:n.*482A>T | |
| ENST00000688810.1:c.4226A>T | ENSP00000509140.1:p.Glu1409Val | |
| ENST00000689233.1:n.9406A>T | ||
| ENST00000690340.1:n.2871A>T | ||
| ENST00000692286.1:c.5066A>T | ENSP00000509490.1:p.Glu1689Val | |
| ENST00000692396.1:c.5150A>T | ENSP00000508605.1:p.Glu1717Val | |
| ENST00000371380.8:c.5198A>T MANE Select | ENSP00000360431.2:p.Glu1733Val | |
| ENST00000371385.8:c.4172A>T | ENSP00000360438.4:p.Glu1391Val | |
| ENST00000674738.1:c.3753A>T | ||
| ENST00000674827.1:c.3314A>T | ENSP00000502523.1:p.Glu1105Val | |
| ENST00000675218.1:c.4274A>T | ENSP00000501910.1:p.Glu1425Val | |
| ENST00000675487.1:c.*1131A>T | ENSP00000502340.1:n.*1131A>T | |
| ENST00000675718.1:c.4467A>T | ||
| ENST00000676102.1:c.4043A>T | ENSP00000502811.1:p.Glu1348Val | |
| ENST00000260766.7:c.5198A>T | ENSP00000260766.3:p.Glu1733Val | |
| ENST00000371375.1:c.4274A>T | ENSP00000360426.1:p.Glu1425Val | |
| ENST00000371380.7:c.5198A>T | ENSP00000360431.2:p.Glu1733Val | |
| ENST00000371385.7:c.4274A>T | ENSP00000360438.3:p.Glu1425Val | |
| NM_001165979.2:c.4274A>T | NP_001159451.1:p.Glu1425Val | |
| NM_001288989.1:c.5150A>T | NP_001275918.1:p.Glu1717Val | |
| NM_016341.3:c.5198A>T | NP_057425.3:p.Glu1733Val | |
| XM_006717885.2:c.5240A>T | XP_006717948.1:p.Glu1747Val | |
| XM_006717886.2:c.5240A>T | XP_006717949.1:p.Glu1747Val | |
| XM_006717888.2:c.5237A>T | XP_006717951.1:p.Glu1746Val | |
| XM_006717889.2:c.5192A>T | XP_006717952.1:p.Glu1731Val | |
| XM_006717890.1:c.4316A>T | XP_006717953.1:p.Glu1439Val | |
| XM_011539849.1:c.5240A>T | XP_011538151.1:p.Glu1747Val | |
| XM_011539850.1:c.4085A>T | XP_011538152.1:p.Glu1362Val | |
| XM_006717885.4:c.5240A>T | XP_006717948.1:p.Glu1747Val | |
| XM_006717888.4:c.5237A>T | XP_006717951.1:p.Glu1746Val | |
| XM_006717889.4:c.5192A>T | XP_006717952.1:p.Glu1731Val | |
| XM_006717890.3:c.4316A>T | XP_006717953.1:p.Glu1439Val | |
| XM_011539849.3:c.5240A>T | XP_011538151.1:p.Glu1747Val | |
| XM_011539850.3:c.4085A>T | XP_011538152.1:p.Glu1362Val | |
| XM_017016310.2:c.5240A>T | XP_016871799.1:p.Glu1747Val | |
| XM_017016311.2:c.5240A>T | XP_016871800.1:p.Glu1747Val | |
| XM_017016312.2:c.4226A>T | XP_016871801.1:p.Glu1409Val | |
| NM_001288989.2:c.5150A>T | NP_001275918.1:p.Glu1717Val | |
| NM_016341.4:c.5198A>T MANE Select | NP_057425.3:p.Glu1733Val |