Revel Score:
ENST00000407721
0.934
ENST00000355527 (MANE Select)
0.934
ENST00000533800
0.934
ENST00000525137
0.934
ENST00000527316
0.934
ENST00000534795
0.808
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71438955T>A , CM000673.2:g.71438955T>A | GRCh38 |
| NC_000011.9:g.71150001T>A , CM000673.1:g.71150001T>A | GRCh37 |
| NC_000011.8:g.70827649T>A | NCBI36 |
| NG_012655.2:g.14477A>T , LRG_340:g.14477A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.755A>T | ENSP00000435707.3:p.Asn252Ile | |
| ENST00000526780.6:c.755A>T | ENSP00000435668.2:p.Asn252Ile | |
| ENST00000527316.6:c.581A>T | ENSP00000435047.2:p.Asn194Ile | |
| ENST00000682708.1:c.806A>T | ENSP00000506866.1:p.Asn269Ile | |
| ENST00000682880.1:c.755A>T | ENSP00000507520.1:p.Asn252Ile | |
| ENST00000683287.1:c.791A>T | ENSP00000507607.1:p.Asn264Ile | |
| ENST00000683714.1:c.755A>T | ENSP00000508207.1:p.Asn252Ile | |
| ENST00000684396.1:n.795A>T | ||
| ENST00000685320.1:c.170A>T | ENSP00000509319.1:p.Asn57Ile | |
| ENST00000690257.1:c.659A>T | ENSP00000510750.1:p.Asn220Ile | |
| ENST00000355527.8:c.755A>T MANE Select | ENSP00000347717.4:p.Asn252Ile | |
| ENST00000355527.7:c.755A>T | ENSP00000347717.3:p.Asn252Ile | |
| ENST00000407721.6:c.755A>T | ENSP00000384739.2:p.Asn252Ile | |
| ENST00000525137.1:c.122A>T | ENSP00000435956.1:p.Asn41Ile | |
| ENST00000527316.5:c.659A>T | ENSP00000435047.1:p.Asn220Ile | |
| ENST00000533800.5:c.5A>T | ENSP00000435011.1:p.Asn2Ile | |
| ENST00000534701.1:n.250A>T | ||
| ENST00000534795.5:c.111A>T | ||
| NM_001163817.1:c.755A>T | NP_001157289.1:p.Asn252Ile | |
| NM_001360.2:c.755A>T , LRG_340t1:c.755A>T | NP_001351.2:p.Asn252Ile | |
| XM_011544777.1:c.755A>T | XP_011543079.1:p.Asn252Ile | |
| XM_011544777.2:c.755A>T | XP_011543079.1:p.Asn252Ile | |
| NM_001163817.2:c.755A>T | NP_001157289.1:p.Asn252Ile | |
| NM_001360.3:c.755A>T MANE Select | NP_001351.2:p.Asn252Ile |