Revel Score:
ENST00000260766
0.285
ENST00000371380 (MANE Select)
0.285
ENST00000371385
0.285
ENST00000371375
0.285
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298585A>G , CM000672.2:g.94298585A>G | GRCh38 |
| NC_000010.10:g.96058342A>G , CM000672.1:g.96058342A>G | GRCh37 |
| NC_000010.9:g.96048332A>G | NCBI36 |
| NG_015799.1:g.309597A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.4450A>G | ENSP00000360426.1:p.Thr1484Ala | |
| ENST00000685253.1:c.*1917A>G | ENSP00000509405.1:n.*1917A>G | |
| ENST00000685889.1:n.2109A>G | ||
| ENST00000686807.1:n.793A>G | ||
| ENST00000686954.1:c.*658A>G | ENSP00000508416.1:n.*658A>G | |
| ENST00000688810.1:c.4402A>G | ENSP00000509140.1:p.Thr1468Ala | |
| ENST00000689233.1:n.9582A>G | ||
| ENST00000690340.1:n.3047A>G | ||
| ENST00000692286.1:c.5242A>G | ENSP00000509490.1:p.Thr1748Ala | |
| ENST00000692396.1:c.5326A>G | ENSP00000508605.1:p.Thr1776Ala | |
| ENST00000371380.8:c.5374A>G MANE Select | ENSP00000360431.2:p.Thr1792Ala | |
| ENST00000371385.8:c.4348A>G | ENSP00000360438.4:p.Thr1450Ala | |
| ENST00000674738.1:c.3929A>G | ||
| ENST00000674827.1:c.3490A>G | ENSP00000502523.1:p.Thr1164Ala | |
| ENST00000675218.1:c.4450A>G | ENSP00000501910.1:p.Thr1484Ala | |
| ENST00000675487.1:c.*1307A>G | ENSP00000502340.1:n.*1307A>G | |
| ENST00000675718.1:c.4643A>G | ||
| ENST00000260766.7:c.5374A>G | ENSP00000260766.3:p.Thr1792Ala | |
| ENST00000371375.1:c.4450A>G | ENSP00000360426.1:p.Thr1484Ala | |
| ENST00000371380.7:c.5374A>G | ENSP00000360431.2:p.Thr1792Ala | |
| ENST00000371385.7:c.4450A>G | ENSP00000360438.3:p.Thr1484Ala | |
| NM_001165979.2:c.4450A>G | NP_001159451.1:p.Thr1484Ala | |
| NM_001288989.1:c.5326A>G | NP_001275918.1:p.Thr1776Ala | |
| NM_016341.3:c.5374A>G | NP_057425.3:p.Thr1792Ala | |
| XM_006717885.2:c.5416A>G | XP_006717948.1:p.Thr1806Ala | |
| XM_006717886.2:c.5416A>G | XP_006717949.1:p.Thr1806Ala | |
| XM_006717888.2:c.5413A>G | XP_006717951.1:p.Thr1805Ala | |
| XM_006717889.2:c.5368A>G | XP_006717952.1:p.Thr1790Ala | |
| XM_006717890.1:c.4492A>G | XP_006717953.1:p.Thr1498Ala | |
| XM_011539849.1:c.5416A>G | XP_011538151.1:p.Thr1806Ala | |
| XM_011539850.1:c.4261A>G | XP_011538152.1:p.Thr1421Ala | |
| XM_006717885.4:c.5416A>G | XP_006717948.1:p.Thr1806Ala | |
| XM_006717888.4:c.5413A>G | XP_006717951.1:p.Thr1805Ala | |
| XM_006717889.4:c.5368A>G | XP_006717952.1:p.Thr1790Ala | |
| XM_006717890.3:c.4492A>G | XP_006717953.1:p.Thr1498Ala | |
| XM_011539849.3:c.5416A>G | XP_011538151.1:p.Thr1806Ala | |
| XM_011539850.3:c.4261A>G | XP_011538152.1:p.Thr1421Ala | |
| XM_017016310.2:c.5416A>G | XP_016871799.1:p.Thr1806Ala | |
| XM_017016311.2:c.5416A>G | XP_016871800.1:p.Thr1806Ala | |
| XM_017016312.2:c.4402A>G | XP_016871801.1:p.Thr1468Ala | |
| NM_001288989.2:c.5326A>G | NP_001275918.1:p.Thr1776Ala | |
| NM_016341.4:c.5374A>G MANE Select | NP_057425.3:p.Thr1792Ala |