Revel Score:
ENST00000360184 (MANE Select)
0.518
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102040629C>T , CM000676.2:g.102040629C>T | GRCh38 |
| NC_000014.8:g.102506966C>T , CM000676.1:g.102506966C>T | GRCh37 |
| NC_000014.7:g.101576719C>T | NCBI36 |
| NG_008777.1:g.81102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684561.1:c.*3356C>T | ENSP00000506816.1:n.*3356C>T | |
| ENST00000360184.10:c.11897C>T MANE Select | ENSP00000348965.4:p.Pro3966Leu | |
| ENST00000553701.1:n.347-3860G>A | ||
| ENST00000556139.2:n.449C>T | ||
| ENST00000556499.3:n.130C>T | ||
| ENST00000557242.1:n.329-3860G>A | ||
| ENST00000557551.1:n.111+3664G>A | ||
| ENST00000643437.1:n.1851C>T | ||
| ENST00000643829.1:n.1726C>T | ||
| ENST00000644794.1:n.2016C>T | ||
| ENST00000644881.2:c.11897C>T | ENSP00000495022.2:p.Pro3966Leu | |
| ENST00000645039.2:c.11690+897C>T | ENSP00000495220.2:n.11690+897C>T | |
| ENST00000645085.1:n.187+897C>T | ||
| ENST00000645149.2:c.11750C>T | ENSP00000495944.2:p.Pro3917Leu | |
| ENST00000645697.1:n.2560C>T | ||
| ENST00000647204.2:n.1138C>T | ||
| ENST00000647366.1:n.5451C>T | ||
| ENST00000679486.1:c.11897C>T | ENSP00000506688.1:p.Pro3966Leu | |
| ENST00000679629.1:c.11722C>T | ENSP00000505589.1:p.Arg3908Trp | |
| ENST00000679720.1:c.11897C>T | ENSP00000505938.1:p.Pro3966Leu | |
| ENST00000679910.1:c.*2979C>T | ENSP00000506521.1:n.*2979C>T | |
| ENST00000680120.1:c.11897C>T | ENSP00000504863.1:p.Pro3966Leu | |
| ENST00000680200.1:c.*1156C>T | ENSP00000506166.1:n.*1156C>T | |
| ENST00000680313.1:c.11897C>T | ENSP00000506208.1:p.Pro3966Leu | |
| ENST00000680423.1:c.*3628C>T | ENSP00000505483.1:n.*3628C>T | |
| ENST00000680715.1:c.11897C>T | ENSP00000505332.1:p.Pro3966Leu | |
| ENST00000681010.1:c.11897C>T | ENSP00000505201.1:p.Pro3966Leu | |
| ENST00000681066.1:c.11865+219C>T | ENSP00000506344.1:n.11865+219C>T | |
| ENST00000681123.1:c.11926C>T | ENSP00000506124.1:p.Arg3976Trp | |
| ENST00000681283.1:c.*609C>T | ENSP00000505667.1:n.*609C>T | |
| ENST00000681536.1:c.*5096C>T | ENSP00000505821.1:n.*5096C>T | |
| ENST00000681574.1:c.11897C>T | ENSP00000505523.1:p.Pro3966Leu | |
| ENST00000681822.1:c.11897C>T | ENSP00000505744.1:p.Pro3966Leu | |
| ENST00000360184.8:c.11897C>T | ENSP00000348965.4:p.Pro3966Leu | |
| ENST00000556139.1:n.449C>T | ||
| ENST00000556499.1:n.55C>T | ||
| NM_001376.4:c.11897C>T | NP_001367.2:p.Pro3966Leu | |
| NM_001376.5:c.11897C>T MANE Select | NP_001367.2:p.Pro3966Leu |