Revel Score:
ENST00000255194 (MANE Select)
0.662
ENST00000519295
0.662
ENST00000535760
0.662
ENST00000535667
0.662
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78216125C>A , CM000667.2:g.78216125C>A | GRCh38 |
| NC_000005.9:g.77511949C>A , CM000667.1:g.77511949C>A | GRCh37 |
| NC_000005.8:g.77547705C>A | NCBI36 |
| NG_007268.1:g.83580G>T , LRG_170:g.83580G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517561.2:c.716G>T | ENSP00000511839.1:p.Trp239Leu | |
| ENST00000517940.2:c.716G>T | ENSP00000511881.1:p.Trp239Leu | |
| ENST00000519295.6:c.569G>T | ENSP00000430597.1:p.Trp190Leu | |
| ENST00000519888.6:c.716G>T | ENSP00000511880.1:p.Trp239Leu | |
| ENST00000695447.1:c.716G>T | ENSP00000511917.1:p.Trp239Leu | |
| ENST00000695449.1:c.*761G>T | ENSP00000511918.1:n.*761G>T | |
| ENST00000695450.1:c.716G>T | ENSP00000511919.1:p.Trp239Leu | |
| ENST00000695451.1:c.*396G>T | ENSP00000511920.1:n.*396G>T | |
| ENST00000695452.1:n.837G>T | ||
| ENST00000695453.1:c.716G>T | ENSP00000511921.1:p.Trp239Leu | |
| ENST00000695454.1:c.716G>T | ENSP00000511922.1:p.Trp239Leu | |
| ENST00000695455.1:c.569G>T | ENSP00000511923.1:p.Trp190Leu | |
| ENST00000695488.1:c.716G>T | ENSP00000511959.1:p.Trp239Leu | |
| ENST00000695505.1:n.874G>T | ||
| ENST00000695507.1:c.716G>T | ENSP00000511970.1:p.Trp239Leu | |
| ENST00000695510.1:c.716G>T | ENSP00000511973.1:p.Trp239Leu | |
| ENST00000695511.1:c.716G>T | ENSP00000511974.1:p.Trp239Leu | |
| ENST00000695512.1:c.716G>T | ENSP00000511975.1:p.Trp239Leu | |
| ENST00000695513.1:c.581G>T | ENSP00000511976.1:p.Trp194Leu | |
| ENST00000695514.1:c.716G>T | ENSP00000511977.1:p.Trp239Leu | |
| ENST00000695515.1:c.716G>T | ENSP00000511978.1:p.Trp239Leu | |
| ENST00000695540.1:n.872G>T | ||
| ENST00000255194.11:c.716G>T MANE Select | ENSP00000255194.7:p.Trp239Leu | |
| ENST00000255194.10:c.716G>T | ENSP00000255194.6:p.Trp239Leu | |
| ENST00000519295.5:c.569G>T | ENSP00000430597.1:p.Trp190Leu | |
| NM_001271769.1:c.569G>T | NP_001258698.1:p.Trp190Leu | |
| NM_003664.4:c.716G>T , LRG_170t1:c.716G>T | NP_003655.3:p.Trp239Leu | |
| XM_005248618.2:c.716G>T | XP_005248675.1:p.Trp239Leu | |
| XM_005248619.3:c.716G>T | XP_005248676.1:p.Trp239Leu | |
| XM_005248618.4:c.716G>T | XP_005248675.1:p.Trp239Leu | |
| XM_005248619.5:c.716G>T | XP_005248676.1:p.Trp239Leu | |
| XM_017010001.1:c.569G>T | XP_016865490.1:p.Trp190Leu | |
| NM_001271769.2:c.569G>T | NP_001258698.1:p.Trp190Leu | |
| NM_003664.5:c.716G>T MANE Select | NP_003655.3:p.Trp239Leu |