Revel Score:
ENST00000407721
0.782
ENST00000355527 (MANE Select)
0.782
ENST00000533800
0.782
ENST00000525137
0.782
ENST00000527316
0.782
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71438955T>C , CM000673.2:g.71438955T>C | GRCh38 |
| NC_000011.9:g.71150001T>C , CM000673.1:g.71150001T>C | GRCh37 |
| NC_000011.8:g.70827649T>C | NCBI36 |
| NG_012655.2:g.14477A>G , LRG_340:g.14477A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.755A>G | ENSP00000435707.3:p.Asn252Ser | |
| ENST00000526780.6:c.755A>G | ENSP00000435668.2:p.Asn252Ser | |
| ENST00000527316.6:c.581A>G | ENSP00000435047.2:p.Asn194Ser | |
| ENST00000682708.1:c.806A>G | ENSP00000506866.1:p.Asn269Ser | |
| ENST00000682880.1:c.755A>G | ENSP00000507520.1:p.Asn252Ser | |
| ENST00000683287.1:c.791A>G | ENSP00000507607.1:p.Asn264Ser | |
| ENST00000683714.1:c.755A>G | ENSP00000508207.1:p.Asn252Ser | |
| ENST00000684396.1:n.795A>G | ||
| ENST00000685320.1:c.170A>G | ENSP00000509319.1:p.Asn57Ser | |
| ENST00000690257.1:c.659A>G | ENSP00000510750.1:p.Asn220Ser | |
| ENST00000355527.8:c.755A>G MANE Select | ENSP00000347717.4:p.Asn252Ser | |
| ENST00000355527.7:c.755A>G | ENSP00000347717.3:p.Asn252Ser | |
| ENST00000407721.6:c.755A>G | ENSP00000384739.2:p.Asn252Ser | |
| ENST00000525137.1:c.122A>G | ENSP00000435956.1:p.Asn41Ser | |
| ENST00000527316.5:c.659A>G | ENSP00000435047.1:p.Asn220Ser | |
| ENST00000533800.5:c.5A>G | ENSP00000435011.1:p.Asn2Ser | |
| ENST00000534701.1:n.250A>G | ||
| ENST00000534795.5:c.111A>G | ||
| NM_001163817.1:c.755A>G | NP_001157289.1:p.Asn252Ser | |
| NM_001360.2:c.755A>G , LRG_340t1:c.755A>G | NP_001351.2:p.Asn252Ser | |
| XM_011544777.1:c.755A>G | XP_011543079.1:p.Asn252Ser | |
| XM_011544777.2:c.755A>G | XP_011543079.1:p.Asn252Ser | |
| NM_001163817.2:c.755A>G | NP_001157289.1:p.Asn252Ser | |
| NM_001360.3:c.755A>G MANE Select | NP_001351.2:p.Asn252Ser |