Revel Score:
ENST00000346085
0.240
ENST00000350026
0.240
ENST00000367148
0.240
ENST00000275248
0.240
ENST00000354354
0.240
ENST00000535255
0.240
ENST00000414678
0.240
ENST00000319584
0.240
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157148764C>G , CM000668.2:g.157148764C>G | GRCh38 |
| NC_000006.11:g.157469898C>G , CM000668.1:g.157469898C>G | GRCh37 |
| NC_000006.10:g.157511590C>G | NCBI36 |
| NG_032093.1:g.375835C>G | |
| NG_032093.2:g.375835C>G | |
| NG_066624.1:g.377739C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.2902C>G | ENSP00000055163.8:p.Arg968Gly | |
| ENST00000414678.8:c.2812C>G | ENSP00000412835.3:p.Arg938Gly | |
| ENST00000637015.2:c.2902C>G | ENSP00000489729.2:p.Arg968Gly | |
| ENST00000319584.11:c.916C>G | ENSP00000313006.7:p.Arg306Gly | |
| ENST00000346085.10:c.2941C>G | ENSP00000344546.5:p.Arg981Gly | |
| ENST00000350026.10:c.2653C>G | ENSP00000055163.7:p.Arg885Gly | |
| ENST00000414678.7:c.1060C>G | ENSP00000412835.2:p.Arg354Gly | |
| ENST00000452544.2:n.803C>G | ||
| ENST00000635849.1:c.223C>G | ENSP00000490948.1:p.Arg75Gly | |
| ENST00000636426.1:n.36C>G | ||
| ENST00000636930.2:c.2902C>G MANE Select | ENSP00000490491.2:p.Arg968Gly | |
| ENST00000637015.1:c.141C>G | ||
| ENST00000637810.1:c.403C>G | ENSP00000489636.1:p.Arg135Gly | |
| ENST00000637904.1:c.403C>G | ENSP00000490550.1:p.Arg135Gly | |
| ENST00000647938.1:c.2692C>G | ENSP00000498155.1:p.Arg898Gly | |
| ENST00000674190.1:n.1651C>G | ||
| ENST00000319584.10:c.919C>G | ENSP00000313006.6:p.Arg307Gly | |
| ENST00000346085.9:c.2692C>G | ENSP00000344546.4:p.Arg898Gly | |
| ENST00000350026.9:c.2653C>G | ENSP00000055163.7:p.Arg885Gly | |
| ENST00000414678.6:c.1060C>G | ENSP00000412835.2:p.Arg354Gly | |
| ENST00000452544.1:n.749C>G | ||
| NM_017519.2:c.2653C>G | NP_059989.2:p.Arg885Gly | |
| NM_020732.3:c.2692C>G | NP_065783.3:p.Arg898Gly | |
| XM_005267069.3:c.2653C>G | XP_005267126.2:p.Arg885Gly | |
| XM_011535984.1:c.1603C>G | XP_011534286.1:p.Arg535Gly | |
| XM_011535985.1:c.1423C>G | XP_011534287.1:p.Arg475Gly | |
| XM_011535986.1:c.1183C>G | XP_011534288.1:p.Arg395Gly | |
| XM_011535987.1:c.802C>G | XP_011534289.1:p.Arg268Gly | |
| XM_011535988.1:c.-20+15557C>G | XP_011534290.1:n.-20+15557C>G | |
| NM_001346813.1:c.2653C>G | NP_001333742.1:p.Arg885Gly | |
| NM_001363725.1:c.403C>G | NP_001350654.1:p.Arg135Gly | |
| XM_011535984.2:c.2734C>G | XP_011534286.2:p.Arg912Gly | |
| XM_011535988.3:c.-20+15557C>G | XP_011534290.1:n.-20+15557C>G | |
| XM_017011103.2:c.2734C>G | XP_016866592.1:p.Arg912Gly | |
| XM_017011104.1:c.2734C>G | XP_016866593.1:p.Arg912Gly | |
| XM_017011105.2:c.2734C>G | XP_016866594.1:p.Arg912Gly | |
| XM_017011106.2:c.2734C>G | XP_016866595.1:p.Arg912Gly | |
| XM_017011107.2:c.2554C>G | XP_016866596.1:p.Arg852Gly | |
| XR_002956289.1:n.2817C>G | ||
| NM_001363725.2:c.403C>G | NP_001350654.1:p.Arg135Gly | |
| NM_001371656.1:c.2941C>G | NP_001358585.1:p.Arg981Gly | |
| NM_001374820.1:c.2941C>G | NP_001361749.1:p.Arg981Gly | |
| NM_001374828.1:c.2902C>G MANE Select | NP_001361757.1:p.Arg968Gly | |
| NM_017519.3:c.2902C>G | NP_059989.3:p.Arg968Gly |