Revel Score:
ENST00000262097
0.740
ENST00000381733
0.740
ENST00000520781
0.740
ENST00000417108
0.740
ENST00000314146
0.740
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18062383G>C , CM000670.2:g.18062383G>C | GRCh38 |
| NC_000008.10:g.17919892G>C , CM000670.1:g.17919892G>C | GRCh37 |
| NC_000008.9:g.17964172G>C | NCBI36 |
| NG_008985.1:g.27616C>G | |
| NG_008985.2:g.27616C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.592C>G | ENSP00000371152.4:p.Leu198Val | |
| ENST00000517409.2:n.481C>G | ||
| ENST00000518746.2:n.1465C>G | ||
| ENST00000519545.6:n.561C>G | ||
| ENST00000520781.6:c.469C>G | ENSP00000427751.1:p.Leu157Val | |
| ENST00000523593.6:c.*387C>G | ENSP00000490700.1:n.*387C>G | |
| ENST00000635944.1:c.*380C>G | ENSP00000490195.1:n.*380C>G | |
| ENST00000635998.1:c.544C>G | ENSP00000490506.1:p.Leu182Val | |
| ENST00000636009.1:c.401C>G | ENSP00000489988.1:n.401C>G | |
| ENST00000636033.1:c.*380C>G | ENSP00000489617.1:n.*380C>G | |
| ENST00000636050.1:c.*387C>G | ENSP00000490562.1:n.*387C>G | |
| ENST00000636128.1:c.383-925C>G | ENSP00000489789.1:n.383-925C>G | |
| ENST00000636160.1:c.*436C>G | ENSP00000489651.1:n.*436C>G | |
| ENST00000636171.1:c.487C>G | ENSP00000489761.1:p.Leu163Val | |
| ENST00000636299.1:c.*315C>G | ENSP00000490202.1:n.*315C>G | |
| ENST00000636455.1:c.592C>G | ENSP00000490502.1:p.Leu198Val | |
| ENST00000636494.1:c.*324C>G | ENSP00000490388.1:n.*324C>G | |
| ENST00000636563.1:n.206C>G | ||
| ENST00000636577.1:c.484C>G | ENSP00000490027.1:p.Leu162Val | |
| ENST00000636691.1:c.349C>G | ENSP00000490725.1:p.Leu117Val | |
| ENST00000636701.1:c.*195C>G | ENSP00000489800.1:n.*195C>G | |
| ENST00000636719.1:n.338C>G | ||
| ENST00000636815.1:c.461C>G | ||
| ENST00000636823.1:c.349C>G | ENSP00000490798.1:p.Leu117Val | |
| ENST00000636920.1:c.*380C>G | ENSP00000490437.1:n.*380C>G | |
| ENST00000636997.1:c.457C>G | ENSP00000490093.1:p.Leu153Val | |
| ENST00000637013.1:c.*912C>G | ENSP00000490596.1:n.*912C>G | |
| ENST00000637014.1:n.413C>G | ||
| ENST00000637095.1:c.*324C>G | ENSP00000490415.1:n.*324C>G | |
| ENST00000637244.1:c.*1062C>G | ENSP00000490188.1:n.*1062C>G | |
| ENST00000637343.1:n.1981C>G | ||
| ENST00000637429.1:c.*756C>G | ENSP00000490522.1:n.*756C>G | |
| ENST00000637484.1:c.*506C>G | ENSP00000490837.1:n.*506C>G | |
| ENST00000637528.1:c.481C>G | ENSP00000490801.1:p.Leu161Val | |
| ENST00000637603.1:c.514C>G | ENSP00000489979.1:p.Leu172Val | |
| ENST00000637609.1:n.3265C>G | ||
| ENST00000637636.1:c.538C>G | ENSP00000490112.1:p.Leu180Val | |
| ENST00000637718.1:c.349C>G | ENSP00000490133.1:p.Leu117Val | |
| ENST00000637790.2:c.544C>G MANE Select | ENSP00000490272.1:p.Leu182Val | |
| ENST00000637857.1:n.145C>G | ||
| ENST00000637922.1:c.349C>G | ENSP00000490071.1:p.Leu117Val | |
| ENST00000637991.1:c.517C>G | ENSP00000489901.1:p.Leu173Val | |
| ENST00000638028.1:n.761C>G | ||
| ENST00000638069.1:n.600C>G | ||
| ENST00000262097.10:c.544C>G | ENSP00000262097.6:p.Leu182Val | |
| ENST00000314146.10:c.526C>G | ENSP00000326970.10:p.Leu176Val | |
| ENST00000381733.8:c.592C>G | ENSP00000371152.4:p.Leu198Val | |
| ENST00000517409.1:n.481C>G | ||
| ENST00000519468.5:n.389-16C>G | ||
| ENST00000519545.5:n.558C>G | ||
| ENST00000520781.5:c.469C>G | ENSP00000427751.1:p.Leu157Val | |
| ENST00000523593.5:n.397C>G | ||
| NM_001127505.1:c.526C>G | NP_001120977.1:p.Leu176Val | |
| NM_001127505.2:c.526C>G | NP_001120977.1:p.Leu176Val | |
| NM_004315.4:c.592C>G | NP_004306.3:p.Leu198Val | |
| NM_004315.5:c.592C>G | NP_004306.3:p.Leu198Val | |
| NM_177924.3:c.544C>G | NP_808592.2:p.Leu182Val | |
| NM_177924.4:c.544C>G | NP_808592.2:p.Leu182Val | |
| XM_005273504.2:c.478C>G | XP_005273561.1:p.Leu160Val | |
| NM_001363743.1:c.349C>G | NP_001350672.1:p.Leu117Val | |
| XM_005273504.3:c.478C>G | XP_005273561.1:p.Leu160Val | |
| NM_177924.5:c.544C>G MANE Select | NP_808592.2:p.Leu182Val | |
| NM_001127505.3:c.526C>G | NP_001120977.1:p.Leu176Val | |
| NM_001363743.2:c.349C>G | NP_001350672.1:p.Leu117Val | |
| NM_004315.6:c.592C>G | NP_004306.3:p.Leu198Val |