Revel Score:
ENST00000262097
0.584
ENST00000381733
0.584
ENST00000520781
0.584
ENST00000417108
0.584
ENST00000314146
0.584
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18061434T>A , CM000670.2:g.18061434T>A | GRCh38 |
| NC_000008.10:g.17918943T>A , CM000670.1:g.17918943T>A | GRCh37 |
| NC_000008.9:g.17963223T>A | NCBI36 |
| NG_008985.1:g.28565A>T | |
| NG_008985.2:g.28565A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.776A>T | ENSP00000371152.4:p.Lys259Met | |
| ENST00000517409.2:n.696A>T | ||
| ENST00000518746.2:n.2414A>T | ||
| ENST00000519545.6:n.745A>T | ||
| ENST00000520781.6:c.653A>T | ENSP00000427751.1:p.Lys218Met | |
| ENST00000521542.2:n.36A>T | ||
| ENST00000635756.1:c.141A>T | ||
| ENST00000635944.1:c.*564A>T | ENSP00000490195.1:n.*564A>T | |
| ENST00000635998.1:c.728A>T | ENSP00000490506.1:p.Lys243Met | |
| ENST00000636009.1:c.585A>T | ENSP00000489988.1:n.585A>T | |
| ENST00000636033.1:c.*564A>T | ENSP00000489617.1:n.*564A>T | |
| ENST00000636050.1:c.*571A>T | ENSP00000490562.1:n.*571A>T | |
| ENST00000636128.1:c.407A>T | ENSP00000489789.1:p.Lys136Met | |
| ENST00000636160.1:c.*620A>T | ENSP00000489651.1:n.*620A>T | |
| ENST00000636171.1:c.671A>T | ENSP00000489761.1:p.Lys224Met | |
| ENST00000636455.1:c.776A>T | ENSP00000490502.1:p.Lys259Met | |
| ENST00000636494.1:c.*508A>T | ENSP00000490388.1:n.*508A>T | |
| ENST00000636563.1:n.390A>T | ||
| ENST00000636577.1:c.668A>T | ENSP00000490027.1:p.Lys223Met | |
| ENST00000636691.1:c.533A>T | ENSP00000490725.1:p.Lys178Met | |
| ENST00000636701.1:c.*379A>T | ENSP00000489800.1:n.*379A>T | |
| ENST00000636815.1:c.645A>T | ||
| ENST00000636920.1:c.*564A>T | ENSP00000490437.1:n.*564A>T | |
| ENST00000636997.1:c.641A>T | ENSP00000490093.1:p.Lys214Met | |
| ENST00000637013.1:c.*1096A>T | ENSP00000490596.1:n.*1096A>T | |
| ENST00000637014.1:n.1135A>T | ||
| ENST00000637095.1:c.*508A>T | ENSP00000490415.1:n.*508A>T | |
| ENST00000637244.1:c.*1246A>T | ENSP00000490188.1:n.*1246A>T | |
| ENST00000637343.1:n.2165A>T | ||
| ENST00000637429.1:c.*940A>T | ENSP00000490522.1:n.*940A>T | |
| ENST00000637484.1:c.*690A>T | ENSP00000490837.1:n.*690A>T | |
| ENST00000637528.1:c.665A>T | ENSP00000490801.1:p.Lys222Met | |
| ENST00000637609.1:n.3449A>T | ||
| ENST00000637636.1:c.722A>T | ENSP00000490112.1:p.Lys241Met | |
| ENST00000637790.2:c.728A>T MANE Select | ENSP00000490272.1:p.Lys243Met | |
| ENST00000637857.1:n.1094A>T | ||
| ENST00000637922.1:c.533A>T | ENSP00000490071.1:p.Lys178Met | |
| ENST00000637991.1:c.701A>T | ENSP00000489901.1:p.Lys234Met | |
| ENST00000638028.1:n.945A>T | ||
| ENST00000638069.1:n.1549A>T | ||
| ENST00000262097.10:c.728A>T | ENSP00000262097.6:p.Lys243Met | |
| ENST00000314146.10:c.710A>T | ENSP00000326970.10:p.Lys237Met | |
| ENST00000381733.8:c.776A>T | ENSP00000371152.4:p.Lys259Met | |
| ENST00000518746.1:n.545A>T | ||
| ENST00000519468.5:n.557A>T | ||
| ENST00000520781.5:c.653A>T | ENSP00000427751.1:p.Lys218Met | |
| ENST00000521542.1:n.441A>T | ||
| NM_001127505.1:c.710A>T | NP_001120977.1:p.Lys237Met | |
| NM_001127505.2:c.710A>T | NP_001120977.1:p.Lys237Met | |
| NM_004315.4:c.776A>T | NP_004306.3:p.Lys259Met | |
| NM_004315.5:c.776A>T | NP_004306.3:p.Lys259Met | |
| NM_177924.3:c.728A>T | NP_808592.2:p.Lys243Met | |
| NM_177924.4:c.728A>T | NP_808592.2:p.Lys243Met | |
| XM_005273504.2:c.662A>T | XP_005273561.1:p.Lys221Met | |
| NM_001363743.1:c.533A>T | NP_001350672.1:p.Lys178Met | |
| XM_005273504.3:c.662A>T | XP_005273561.1:p.Lys221Met | |
| NM_177924.5:c.728A>T MANE Select | NP_808592.2:p.Lys243Met | |
| NM_001127505.3:c.710A>T | NP_001120977.1:p.Lys237Met | |
| NM_001363743.2:c.533A>T | NP_001350672.1:p.Lys178Met | |
| NM_004315.6:c.776A>T | NP_004306.3:p.Lys259Met |