Revel Score:
ENST00000346085
0.571
ENST00000350026
0.571
ENST00000367148
0.571
ENST00000275248
0.571
ENST00000354354
0.571
ENST00000414678
0.571
ENST00000319584
0.571
ENST00000400790
0.571
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157181137C>G , CM000668.2:g.157181137C>G | GRCh38 |
| NC_000006.11:g.157502271C>G , CM000668.1:g.157502271C>G | GRCh37 |
| NC_000006.10:g.157543963C>G | NCBI36 |
| NG_032093.1:g.408208C>G | |
| NG_032093.2:g.408208C>G | |
| NG_066624.1:g.410112C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3514C>G | ENSP00000055163.8:p.Arg1172Gly | |
| ENST00000414678.8:c.3583C>G | ENSP00000412835.3:p.Arg1195Gly | |
| ENST00000637015.2:c.3802C>G | ENSP00000489729.2:p.Arg1268Gly | |
| ENST00000319584.11:c.1687C>G | ENSP00000313006.7:p.Arg563Gly | |
| ENST00000346085.10:c.3553C>G | ENSP00000344546.5:p.Arg1185Gly | |
| ENST00000350026.10:c.3265C>G | ENSP00000055163.7:p.Arg1089Gly | |
| ENST00000414678.7:c.1831C>G | ENSP00000412835.2:p.Arg611Gly | |
| ENST00000635849.1:c.994C>G | ENSP00000490948.1:p.Arg332Gly | |
| ENST00000635957.1:c.628C>G | ENSP00000490385.1:p.Arg210Gly | |
| ENST00000636930.2:c.3673C>G MANE Select | ENSP00000490491.2:p.Arg1225Gly | |
| ENST00000636940.1:n.1670C>G | ||
| ENST00000637015.1:c.1041C>G | ||
| ENST00000637568.1:c.955C>G | ||
| ENST00000637741.1:n.339C>G | ||
| ENST00000637810.1:c.1015C>G | ENSP00000489636.1:p.Arg339Gly | |
| ENST00000637904.1:c.1174C>G | ENSP00000490550.1:p.Arg392Gly | |
| ENST00000647938.1:c.3304C>G | ENSP00000498155.1:p.Arg1102Gly | |
| ENST00000319584.10:c.1690C>G | ENSP00000313006.6:p.Arg564Gly | |
| ENST00000346085.9:c.3304C>G | ENSP00000344546.4:p.Arg1102Gly | |
| ENST00000350026.9:c.3265C>G | ENSP00000055163.7:p.Arg1089Gly | |
| ENST00000400790.3:c.466C>G | ENSP00000383596.3:p.Arg156Gly | |
| ENST00000414678.6:c.1831C>G | ENSP00000412835.2:p.Arg611Gly | |
| ENST00000478761.3:c.875C>G | ||
| NM_017519.2:c.3265C>G | NP_059989.2:p.Arg1089Gly | |
| NM_020732.3:c.3304C>G | NP_065783.3:p.Arg1102Gly | |
| XM_005267069.3:c.3424C>G | XP_005267126.2:p.Arg1142Gly | |
| XM_011535984.1:c.2503C>G | XP_011534286.1:p.Arg835Gly | |
| XM_011535985.1:c.2323C>G | XP_011534287.1:p.Arg775Gly | |
| XM_011535986.1:c.2083C>G | XP_011534288.1:p.Arg695Gly | |
| XM_011535987.1:c.1702C>G | XP_011534289.1:p.Arg568Gly | |
| XM_011535988.1:c.565C>G | XP_011534290.1:p.Arg189Gly | |
| NM_001346813.1:c.3424C>G | NP_001333742.1:p.Arg1142Gly | |
| NM_001363725.1:c.1174C>G | NP_001350654.1:p.Arg392Gly | |
| XM_011535984.2:c.3634C>G | XP_011534286.2:p.Arg1212Gly | |
| XM_011535988.3:c.565C>G | XP_011534290.1:p.Arg189Gly | |
| XM_017011103.2:c.3535C>G | XP_016866592.1:p.Arg1179Gly | |
| XM_017011104.1:c.3505C>G | XP_016866593.1:p.Arg1169Gly | |
| XM_017011105.2:c.3475C>G | XP_016866594.1:p.Arg1159Gly | |
| XM_017011106.2:c.3346C>G | XP_016866595.1:p.Arg1116Gly | |
| XM_017011107.2:c.3325C>G | XP_016866596.1:p.Arg1109Gly | |
| XR_002956289.1:n.3717C>G | ||
| NM_001363725.2:c.1174C>G | NP_001350654.1:p.Arg392Gly | |
| NM_001371656.1:c.3553C>G | NP_001358585.1:p.Arg1185Gly | |
| NM_001374820.1:c.3553C>G | NP_001361749.1:p.Arg1185Gly | |
| NM_001374828.1:c.3673C>G MANE Select | NP_001361757.1:p.Arg1225Gly | |
| NM_017519.3:c.3514C>G | NP_059989.3:p.Arg1172Gly |