Revel Score:
ENST00000260766
0.120
ENST00000371380 (MANE Select)
0.120
ENST00000371385
0.120
ENST00000371375
0.120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298412A>C , CM000672.2:g.94298412A>C | GRCh38 |
| NC_000010.10:g.96058169A>C , CM000672.1:g.96058169A>C | GRCh37 |
| NC_000010.9:g.96048159A>C | NCBI36 |
| NG_015799.1:g.309424A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.4277A>C | ENSP00000360426.1:p.Glu1426Ala | |
| ENST00000685253.1:c.*1744A>C | ENSP00000509405.1:n.*1744A>C | |
| ENST00000685889.1:n.1936A>C | ||
| ENST00000686807.1:n.620A>C | ||
| ENST00000686954.1:c.*485A>C | ENSP00000508416.1:n.*485A>C | |
| ENST00000688810.1:c.4229A>C | ENSP00000509140.1:p.Glu1410Ala | |
| ENST00000689233.1:n.9409A>C | ||
| ENST00000690340.1:n.2874A>C | ||
| ENST00000692286.1:c.5069A>C | ENSP00000509490.1:p.Glu1690Ala | |
| ENST00000692396.1:c.5153A>C | ENSP00000508605.1:p.Glu1718Ala | |
| ENST00000371380.8:c.5201A>C MANE Select | ENSP00000360431.2:p.Glu1734Ala | |
| ENST00000371385.8:c.4175A>C | ENSP00000360438.4:p.Glu1392Ala | |
| ENST00000674738.1:c.3756A>C | ||
| ENST00000674827.1:c.3317A>C | ENSP00000502523.1:p.Glu1106Ala | |
| ENST00000675218.1:c.4277A>C | ENSP00000501910.1:p.Glu1426Ala | |
| ENST00000675487.1:c.*1134A>C | ENSP00000502340.1:n.*1134A>C | |
| ENST00000675718.1:c.4470A>C | ||
| ENST00000676102.1:c.4046A>C | ENSP00000502811.1:p.Glu1349Ala | |
| ENST00000260766.7:c.5201A>C | ENSP00000260766.3:p.Glu1734Ala | |
| ENST00000371375.1:c.4277A>C | ENSP00000360426.1:p.Glu1426Ala | |
| ENST00000371380.7:c.5201A>C | ENSP00000360431.2:p.Glu1734Ala | |
| ENST00000371385.7:c.4277A>C | ENSP00000360438.3:p.Glu1426Ala | |
| NM_001165979.2:c.4277A>C | NP_001159451.1:p.Glu1426Ala | |
| NM_001288989.1:c.5153A>C | NP_001275918.1:p.Glu1718Ala | |
| NM_016341.3:c.5201A>C | NP_057425.3:p.Glu1734Ala | |
| XM_006717885.2:c.5243A>C | XP_006717948.1:p.Glu1748Ala | |
| XM_006717886.2:c.5243A>C | XP_006717949.1:p.Glu1748Ala | |
| XM_006717888.2:c.5240A>C | XP_006717951.1:p.Glu1747Ala | |
| XM_006717889.2:c.5195A>C | XP_006717952.1:p.Glu1732Ala | |
| XM_006717890.1:c.4319A>C | XP_006717953.1:p.Glu1440Ala | |
| XM_011539849.1:c.5243A>C | XP_011538151.1:p.Glu1748Ala | |
| XM_011539850.1:c.4088A>C | XP_011538152.1:p.Glu1363Ala | |
| XM_006717885.4:c.5243A>C | XP_006717948.1:p.Glu1748Ala | |
| XM_006717888.4:c.5240A>C | XP_006717951.1:p.Glu1747Ala | |
| XM_006717889.4:c.5195A>C | XP_006717952.1:p.Glu1732Ala | |
| XM_006717890.3:c.4319A>C | XP_006717953.1:p.Glu1440Ala | |
| XM_011539849.3:c.5243A>C | XP_011538151.1:p.Glu1748Ala | |
| XM_011539850.3:c.4088A>C | XP_011538152.1:p.Glu1363Ala | |
| XM_017016310.2:c.5243A>C | XP_016871799.1:p.Glu1748Ala | |
| XM_017016311.2:c.5243A>C | XP_016871800.1:p.Glu1748Ala | |
| XM_017016312.2:c.4229A>C | XP_016871801.1:p.Glu1410Ala | |
| NM_001288989.2:c.5153A>C | NP_001275918.1:p.Glu1718Ala | |
| NM_016341.4:c.5201A>C MANE Select | NP_057425.3:p.Glu1734Ala |