Revel Score:
ENST00000346085
0.598
ENST00000350026
0.598
ENST00000367148
0.598
ENST00000275248
0.598
ENST00000354354
0.598
ENST00000414678
0.598
ENST00000319584
0.598
ENST00000400790
0.598
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157181056C>G , CM000668.2:g.157181056C>G | GRCh38 |
| NC_000006.11:g.157502190C>G , CM000668.1:g.157502190C>G | GRCh37 |
| NC_000006.10:g.157543882C>G | NCBI36 |
| NG_032093.1:g.408127C>G | |
| NG_032093.2:g.408127C>G | |
| NG_066624.1:g.410031C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3433C>G | ENSP00000055163.8:p.Arg1145Gly | |
| ENST00000414678.8:c.3502C>G | ENSP00000412835.3:p.Arg1168Gly | |
| ENST00000637015.2:c.3721C>G | ENSP00000489729.2:p.Arg1241Gly | |
| ENST00000319584.11:c.1606C>G | ENSP00000313006.7:p.Arg536Gly | |
| ENST00000346085.10:c.3472C>G | ENSP00000344546.5:p.Arg1158Gly | |
| ENST00000350026.10:c.3184C>G | ENSP00000055163.7:p.Arg1062Gly | |
| ENST00000414678.7:c.1750C>G | ENSP00000412835.2:p.Arg584Gly | |
| ENST00000635849.1:c.913C>G | ENSP00000490948.1:p.Arg305Gly | |
| ENST00000635957.1:c.547C>G | ENSP00000490385.1:p.Arg183Gly | |
| ENST00000636930.2:c.3592C>G MANE Select | ENSP00000490491.2:p.Arg1198Gly | |
| ENST00000636940.1:n.1589C>G | ||
| ENST00000637015.1:c.960C>G | ||
| ENST00000637568.1:c.874C>G | ||
| ENST00000637741.1:n.258C>G | ||
| ENST00000637810.1:c.934C>G | ENSP00000489636.1:p.Arg312Gly | |
| ENST00000637904.1:c.1093C>G | ENSP00000490550.1:p.Arg365Gly | |
| ENST00000647938.1:c.3223C>G | ENSP00000498155.1:p.Arg1075Gly | |
| ENST00000319584.10:c.1609C>G | ENSP00000313006.6:p.Arg537Gly | |
| ENST00000346085.9:c.3223C>G | ENSP00000344546.4:p.Arg1075Gly | |
| ENST00000350026.9:c.3184C>G | ENSP00000055163.7:p.Arg1062Gly | |
| ENST00000400790.3:c.385C>G | ENSP00000383596.3:p.Arg129Gly | |
| ENST00000414678.6:c.1750C>G | ENSP00000412835.2:p.Arg584Gly | |
| ENST00000478761.3:c.794C>G | ||
| NM_017519.2:c.3184C>G | NP_059989.2:p.Arg1062Gly | |
| NM_020732.3:c.3223C>G | NP_065783.3:p.Arg1075Gly | |
| XM_005267069.3:c.3343C>G | XP_005267126.2:p.Arg1115Gly | |
| XM_011535984.1:c.2422C>G | XP_011534286.1:p.Arg808Gly | |
| XM_011535985.1:c.2242C>G | XP_011534287.1:p.Arg748Gly | |
| XM_011535986.1:c.2002C>G | XP_011534288.1:p.Arg668Gly | |
| XM_011535987.1:c.1621C>G | XP_011534289.1:p.Arg541Gly | |
| XM_011535988.1:c.484C>G | XP_011534290.1:p.Arg162Gly | |
| NM_001346813.1:c.3343C>G | NP_001333742.1:p.Arg1115Gly | |
| NM_001363725.1:c.1093C>G | NP_001350654.1:p.Arg365Gly | |
| XM_011535984.2:c.3553C>G | XP_011534286.2:p.Arg1185Gly | |
| XM_011535988.3:c.484C>G | XP_011534290.1:p.Arg162Gly | |
| XM_017011103.2:c.3454C>G | XP_016866592.1:p.Arg1152Gly | |
| XM_017011104.1:c.3424C>G | XP_016866593.1:p.Arg1142Gly | |
| XM_017011105.2:c.3394C>G | XP_016866594.1:p.Arg1132Gly | |
| XM_017011106.2:c.3265C>G | XP_016866595.1:p.Arg1089Gly | |
| XM_017011107.2:c.3244C>G | XP_016866596.1:p.Arg1082Gly | |
| XR_002956289.1:n.3636C>G | ||
| NM_001363725.2:c.1093C>G | NP_001350654.1:p.Arg365Gly | |
| NM_001371656.1:c.3472C>G | NP_001358585.1:p.Arg1158Gly | |
| NM_001374820.1:c.3472C>G | NP_001361749.1:p.Arg1158Gly | |
| NM_001374828.1:c.3592C>G MANE Select | NP_001361757.1:p.Arg1198Gly | |
| NM_017519.3:c.3433C>G | NP_059989.3:p.Arg1145Gly |