Revel Score:
ENST00000260766
0.108
ENST00000371380 (MANE Select)
0.108
ENST00000371385
0.108
ENST00000371375
0.108
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298553C>T , CM000672.2:g.94298553C>T | GRCh38 |
| NC_000010.10:g.96058310C>T , CM000672.1:g.96058310C>T | GRCh37 |
| NC_000010.9:g.96048300C>T | NCBI36 |
| NG_015799.1:g.309565C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.4418C>T | ENSP00000360426.1:p.Ala1473Val | |
| ENST00000685253.1:c.*1885C>T | ENSP00000509405.1:n.*1885C>T | |
| ENST00000685889.1:n.2077C>T | ||
| ENST00000686807.1:n.761C>T | ||
| ENST00000686954.1:c.*626C>T | ENSP00000508416.1:n.*626C>T | |
| ENST00000688810.1:c.4370C>T | ENSP00000509140.1:p.Ala1457Val | |
| ENST00000689233.1:n.9550C>T | ||
| ENST00000690340.1:n.3015C>T | ||
| ENST00000692286.1:c.5210C>T | ENSP00000509490.1:p.Ala1737Val | |
| ENST00000692396.1:c.5294C>T | ENSP00000508605.1:p.Ala1765Val | |
| ENST00000371380.8:c.5342C>T MANE Select | ENSP00000360431.2:p.Ala1781Val | |
| ENST00000371385.8:c.4316C>T | ENSP00000360438.4:p.Ala1439Val | |
| ENST00000674738.1:c.3897C>T | ||
| ENST00000674827.1:c.3458C>T | ENSP00000502523.1:p.Ala1153Val | |
| ENST00000675218.1:c.4418C>T | ENSP00000501910.1:p.Ala1473Val | |
| ENST00000675487.1:c.*1275C>T | ENSP00000502340.1:n.*1275C>T | |
| ENST00000675718.1:c.4611C>T | ||
| ENST00000260766.7:c.5342C>T | ENSP00000260766.3:p.Ala1781Val | |
| ENST00000371375.1:c.4418C>T | ENSP00000360426.1:p.Ala1473Val | |
| ENST00000371380.7:c.5342C>T | ENSP00000360431.2:p.Ala1781Val | |
| ENST00000371385.7:c.4418C>T | ENSP00000360438.3:p.Ala1473Val | |
| NM_001165979.2:c.4418C>T | NP_001159451.1:p.Ala1473Val | |
| NM_001288989.1:c.5294C>T | NP_001275918.1:p.Ala1765Val | |
| NM_016341.3:c.5342C>T | NP_057425.3:p.Ala1781Val | |
| XM_006717885.2:c.5384C>T | XP_006717948.1:p.Ala1795Val | |
| XM_006717886.2:c.5384C>T | XP_006717949.1:p.Ala1795Val | |
| XM_006717888.2:c.5381C>T | XP_006717951.1:p.Ala1794Val | |
| XM_006717889.2:c.5336C>T | XP_006717952.1:p.Ala1779Val | |
| XM_006717890.1:c.4460C>T | XP_006717953.1:p.Ala1487Val | |
| XM_011539849.1:c.5384C>T | XP_011538151.1:p.Ala1795Val | |
| XM_011539850.1:c.4229C>T | XP_011538152.1:p.Ala1410Val | |
| XM_006717885.4:c.5384C>T | XP_006717948.1:p.Ala1795Val | |
| XM_006717888.4:c.5381C>T | XP_006717951.1:p.Ala1794Val | |
| XM_006717889.4:c.5336C>T | XP_006717952.1:p.Ala1779Val | |
| XM_006717890.3:c.4460C>T | XP_006717953.1:p.Ala1487Val | |
| XM_011539849.3:c.5384C>T | XP_011538151.1:p.Ala1795Val | |
| XM_011539850.3:c.4229C>T | XP_011538152.1:p.Ala1410Val | |
| XM_017016310.2:c.5384C>T | XP_016871799.1:p.Ala1795Val | |
| XM_017016311.2:c.5384C>T | XP_016871800.1:p.Ala1795Val | |
| XM_017016312.2:c.4370C>T | XP_016871801.1:p.Ala1457Val | |
| NM_001288989.2:c.5294C>T | NP_001275918.1:p.Ala1765Val | |
| NM_016341.4:c.5342C>T MANE Select | NP_057425.3:p.Ala1781Val |