Revel Score:
ENST00000389794
0.316
ENST00000389793 (MANE Select)
0.316
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235734590C>T , CM000663.2:g.235734590C>T | GRCh38 |
| NC_000001.10:g.235897890C>T , CM000663.1:g.235897890C>T | GRCh37 |
| NC_000001.9:g.233964513C>T | NCBI36 |
| NG_007397.1:g.154051G>A , LRG_143:g.154051G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461526.2:c.3956G>A | ENSP00000513165.1:n.3956G>A | |
| ENST00000475277.2:c.523G>A | ENSP00000513164.1:p.Glu175Lys | |
| ENST00000697178.1:c.*3852G>A | ENSP00000513163.1:n.*3852G>A | |
| ENST00000697236.1:c.2137G>A | ENSP00000513203.1:p.Glu713Lys | |
| ENST00000697240.1:c.562G>A | ENSP00000513205.1:p.Glu188Lys | |
| ENST00000697241.1:c.2908G>A | ENSP00000513206.1:p.Glu970Lys | |
| ENST00000389793.7:c.8428G>A MANE Select | ENSP00000374443.2:p.Glu2810Lys | |
| ENST00000389793.6:c.8428G>A | ENSP00000374443.2:p.Glu2810Lys | |
| ENST00000389794.7:c.*3852G>A | ENSP00000374444.4:n.*3852G>A | |
| ENST00000473037.5:n.3418G>A | ||
| NM_000081.3:c.8428G>A , LRG_143t1:c.8428G>A | NP_000072.2:p.Glu2810Lys | |
| NM_001301365.1:c.8428G>A , LRG_143t2:c.8428G>A | NP_001288294.1:p.Glu2810Lys | |
| XM_011544031.1:c.8590G>A | XP_011542333.1:p.Glu2864Lys | |
| XM_011544032.1:c.8590G>A | XP_011542334.1:p.Glu2864Lys | |
| XM_011544033.1:c.8590G>A | XP_011542335.1:p.Glu2864Lys | |
| XM_011544034.1:c.8452G>A | XP_011542336.1:p.Glu2818Lys | |
| XM_011544035.1:c.8590G>A | XP_011542337.1:p.Glu2864Lys | |
| XM_011544036.1:c.6253G>A | XP_011542338.1:p.Glu2085Lys | |
| XM_011544033.2:c.8590G>A | XP_011542335.1:p.Glu2864Lys | |
| XM_011544035.2:c.8590G>A | XP_011542337.1:p.Glu2864Lys | |
| XM_011544036.2:c.6253G>A | XP_011542338.1:p.Glu2085Lys | |
| XM_017000150.1:c.8590G>A | XP_016855639.1:p.Glu2864Lys | |
| XR_001736947.1:n.9463G>A | ||
| NM_000081.4:c.8428G>A MANE Select | NP_000072.2:p.Glu2810Lys |