Revel Score:
ENST00000260766
0.202
ENST00000371380 (MANE Select)
0.202
ENST00000371385
0.202
ENST00000371375
0.202
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298454T>G , CM000672.2:g.94298454T>G | GRCh38 |
| NC_000010.10:g.96058211T>G , CM000672.1:g.96058211T>G | GRCh37 |
| NC_000010.9:g.96048201T>G | NCBI36 |
| NG_015799.1:g.309466T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.4319T>G | ENSP00000360426.1:p.Ile1440Ser | |
| ENST00000685253.1:c.*1786T>G | ENSP00000509405.1:n.*1786T>G | |
| ENST00000685889.1:n.1978T>G | ||
| ENST00000686807.1:n.662T>G | ||
| ENST00000686954.1:c.*527T>G | ENSP00000508416.1:n.*527T>G | |
| ENST00000688810.1:c.4271T>G | ENSP00000509140.1:p.Ile1424Ser | |
| ENST00000689233.1:n.9451T>G | ||
| ENST00000690340.1:n.2916T>G | ||
| ENST00000692286.1:c.5111T>G | ENSP00000509490.1:p.Ile1704Ser | |
| ENST00000692396.1:c.5195T>G | ENSP00000508605.1:p.Ile1732Ser | |
| ENST00000371380.8:c.5243T>G MANE Select | ENSP00000360431.2:p.Ile1748Ser | |
| ENST00000371385.8:c.4217T>G | ENSP00000360438.4:p.Ile1406Ser | |
| ENST00000674738.1:c.3798T>G | ||
| ENST00000674827.1:c.3359T>G | ENSP00000502523.1:p.Ile1120Ser | |
| ENST00000675218.1:c.4319T>G | ENSP00000501910.1:p.Ile1440Ser | |
| ENST00000675487.1:c.*1176T>G | ENSP00000502340.1:n.*1176T>G | |
| ENST00000675718.1:c.4512T>G | ||
| ENST00000676102.1:c.4088T>G | ENSP00000502811.1:p.Ile1363Ser | |
| ENST00000260766.7:c.5243T>G | ENSP00000260766.3:p.Ile1748Ser | |
| ENST00000371375.1:c.4319T>G | ENSP00000360426.1:p.Ile1440Ser | |
| ENST00000371380.7:c.5243T>G | ENSP00000360431.2:p.Ile1748Ser | |
| ENST00000371385.7:c.4319T>G | ENSP00000360438.3:p.Ile1440Ser | |
| NM_001165979.2:c.4319T>G | NP_001159451.1:p.Ile1440Ser | |
| NM_001288989.1:c.5195T>G | NP_001275918.1:p.Ile1732Ser | |
| NM_016341.3:c.5243T>G | NP_057425.3:p.Ile1748Ser | |
| XM_006717885.2:c.5285T>G | XP_006717948.1:p.Ile1762Ser | |
| XM_006717886.2:c.5285T>G | XP_006717949.1:p.Ile1762Ser | |
| XM_006717888.2:c.5282T>G | XP_006717951.1:p.Ile1761Ser | |
| XM_006717889.2:c.5237T>G | XP_006717952.1:p.Ile1746Ser | |
| XM_006717890.1:c.4361T>G | XP_006717953.1:p.Ile1454Ser | |
| XM_011539849.1:c.5285T>G | XP_011538151.1:p.Ile1762Ser | |
| XM_011539850.1:c.4130T>G | XP_011538152.1:p.Ile1377Ser | |
| XM_006717885.4:c.5285T>G | XP_006717948.1:p.Ile1762Ser | |
| XM_006717888.4:c.5282T>G | XP_006717951.1:p.Ile1761Ser | |
| XM_006717889.4:c.5237T>G | XP_006717952.1:p.Ile1746Ser | |
| XM_006717890.3:c.4361T>G | XP_006717953.1:p.Ile1454Ser | |
| XM_011539849.3:c.5285T>G | XP_011538151.1:p.Ile1762Ser | |
| XM_011539850.3:c.4130T>G | XP_011538152.1:p.Ile1377Ser | |
| XM_017016310.2:c.5285T>G | XP_016871799.1:p.Ile1762Ser | |
| XM_017016311.2:c.5285T>G | XP_016871800.1:p.Ile1762Ser | |
| XM_017016312.2:c.4271T>G | XP_016871801.1:p.Ile1424Ser | |
| NM_001288989.2:c.5195T>G | NP_001275918.1:p.Ile1732Ser | |
| NM_016341.4:c.5243T>G MANE Select | NP_057425.3:p.Ile1748Ser |