Revel Score:
ENST00000320230
0.927
ENST00000531214
0.927
ENST00000481290
0.927
ENST00000531437
0.927
ENST00000533385
0.927
ENST00000526152
0.927
ENST00000528606
0.927
ENST00000527723
0.927
ENST00000531514
0.927
ENST00000528936
0.927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.792954C>G , CM000673.2:g.792954C>G | GRCh38 |
| NC_000011.9:g.792954C>G , CM000673.1:g.792954C>G | GRCh37 |
| NC_000011.8:g.782954C>G | NCBI36 |
| NG_023407.1:g.10316G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000628067.3:c.328G>C MANE Select | ENSP00000486058.1:p.Gly110Arg | |
| ENST00000320230.9:c.328G>C | ENSP00000322020.5:p.Gly110Arg | |
| ENST00000456706.6:c.328G>C | ENSP00000392749.3:p.Gly110Arg | |
| ENST00000481290.5:c.403G>C | ENSP00000431829.2:p.Gly135Arg | |
| ENST00000526152.5:c.328G>C | ENSP00000436745.1:p.Gly110Arg | |
| ENST00000527723.5:c.328G>C | ENSP00000434479.2:p.Gly110Arg | |
| ENST00000527734.5:c.*114G>C | ENSP00000433655.1:n.*114G>C | |
| ENST00000528606.5:c.328G>C | ENSP00000437045.2:p.Gly110Arg | |
| ENST00000529351.5:c.*114G>C | ENSP00000432222.1:n.*114G>C | |
| ENST00000531214.5:c.328G>C | ENSP00000437236.1:p.Gly110Arg | |
| ENST00000531437.5:c.316G>C | ENSP00000435862.1:p.Gly106Arg | |
| ENST00000531514.5:c.*114G>C | ENSP00000433780.2:n.*114G>C | |
| ENST00000531534.5:c.328G>C | ENSP00000435402.2:p.Gly110Arg | |
| ENST00000532484.5:c.328G>C | ENSP00000431466.2:p.Gly110Arg | |
| ENST00000533385.5:c.328G>C | ENSP00000434287.2:p.Gly110Arg | |
| ENST00000625419.2:c.328G>C | ENSP00000485719.1:p.Gly110Arg | |
| ENST00000625752.2:c.328G>C | ENSP00000487237.1:p.Gly110Arg | |
| ENST00000627843.2:c.328G>C | ENSP00000486512.1:p.Gly110Arg | |
| ENST00000628067.2:c.328G>C | ENSP00000486058.1:p.Gly110Arg | |
| ENST00000630809.2:n.196G>C | ||
| NM_001191060.1:c.328G>C | NP_001177989.1:p.Gly110Arg | |
| NM_001191061.1:c.328G>C | NP_001177990.1:p.Gly110Arg | |
| NM_024698.5:c.328G>C | NP_078974.1:p.Gly110Arg | |
| XM_011520369.1:c.328G>C | XP_011518671.1:p.Gly110Arg | |
| XM_011520370.1:c.328G>C | XP_011518672.1:p.Gly110Arg | |
| XM_011520371.1:c.328G>C | XP_011518673.1:p.Gly110Arg | |
| XM_011520370.2:c.328G>C | XP_011518672.1:p.Gly110Arg | |
| XM_011520371.2:c.328G>C | XP_011518673.1:p.Gly110Arg | |
| XM_024448687.1:c.328G>C | XP_024304455.1:p.Gly110Arg | |
| XM_024448688.1:c.328G>C | XP_024304456.1:p.Gly110Arg | |
| XM_024448689.1:c.328G>C | XP_024304457.1:p.Gly110Arg | |
| NM_001191061.2:c.328G>C MANE Select | NP_001177990.1:p.Gly110Arg | |
| NM_024698.6:c.328G>C | NP_078974.1:p.Gly110Arg | |
| NM_001191060.2:c.328G>C | NP_001177989.1:p.Gly110Arg |