Revel Score:
ENST00000346085
0.273
ENST00000350026
0.273
ENST00000367148
0.273
ENST00000275248
0.273
ENST00000414678
0.273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157207241C>G , CM000668.2:g.157207241C>G | GRCh38 |
| NC_000006.11:g.157528375C>G , CM000668.1:g.157528375C>G | GRCh37 |
| NC_000006.10:g.157570067C>G | NCBI36 |
| NG_032093.1:g.434312C>G | |
| NG_032093.2:g.434312C>G | |
| NG_066624.1:g.436216C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.6310C>G | ENSP00000055163.8:p.Gln2104Glu | |
| ENST00000414678.8:c.6379C>G | ENSP00000412835.3:p.Gln2127Glu | |
| ENST00000637015.2:c.6598C>G | ENSP00000489729.2:p.Gln2200Glu | |
| ENST00000346085.10:c.6349C>G | ENSP00000344546.5:p.Gln2117Glu | |
| ENST00000350026.10:c.6061C>G | ENSP00000055163.7:p.Gln2021Glu | |
| ENST00000414678.7:c.4627C>G | ENSP00000412835.2:p.Gln1543Glu | |
| ENST00000635849.1:c.3790C>G | ENSP00000490948.1:p.Gln1264Glu | |
| ENST00000635928.1:c.625C>G | ENSP00000489717.1:p.Gln209Glu | |
| ENST00000635957.1:c.3421C>G | ENSP00000490385.1:p.Gln1141Glu | |
| ENST00000636227.1:n.4932C>G | ||
| ENST00000636254.1:n.2389C>G | ||
| ENST00000636930.2:c.6469C>G MANE Select | ENSP00000490491.2:p.Gln2157Glu | |
| ENST00000636940.1:n.4466C>G | ||
| ENST00000637015.1:c.3837C>G | ||
| ENST00000637568.1:c.3751C>G | ||
| ENST00000637741.1:n.3135C>G | ||
| ENST00000637810.1:c.3811C>G | ENSP00000489636.1:p.Gln1271Glu | |
| ENST00000637904.1:c.3970C>G | ENSP00000490550.1:p.Gln1324Glu | |
| ENST00000637933.1:n.3584C>G | ||
| ENST00000647938.1:c.6100C>G | ENSP00000498155.1:p.Gln2034Glu | |
| ENST00000346085.9:c.6100C>G | ENSP00000344546.4:p.Gln2034Glu | |
| ENST00000350026.9:c.6061C>G | ENSP00000055163.7:p.Gln2021Glu | |
| ENST00000414678.6:c.4627C>G | ENSP00000412835.2:p.Gln1543Glu | |
| NM_017519.2:c.6061C>G | NP_059989.2:p.Gln2021Glu | |
| NM_020732.3:c.6100C>G | NP_065783.3:p.Gln2034Glu | |
| XM_005267069.3:c.6220C>G | XP_005267126.2:p.Gln2074Glu | |
| XM_011535984.1:c.5299C>G | XP_011534286.1:p.Gln1767Glu | |
| XM_011535985.1:c.5119C>G | XP_011534287.1:p.Gln1707Glu | |
| XM_011535986.1:c.4879C>G | XP_011534288.1:p.Gln1627Glu | |
| XM_011535987.1:c.4498C>G | XP_011534289.1:p.Gln1500Glu | |
| XM_011535988.1:c.3361C>G | XP_011534290.1:p.Gln1121Glu | |
| NM_001346813.1:c.6220C>G | NP_001333742.1:p.Gln2074Glu | |
| NM_001363725.1:c.3970C>G | NP_001350654.1:p.Gln1324Glu | |
| XM_011535984.2:c.6430C>G | XP_011534286.2:p.Gln2144Glu | |
| XM_011535988.3:c.3361C>G | XP_011534290.1:p.Gln1121Glu | |
| XM_017011103.2:c.6331C>G | XP_016866592.1:p.Gln2111Glu | |
| XM_017011104.1:c.6301C>G | XP_016866593.1:p.Gln2101Glu | |
| XM_017011105.2:c.6271C>G | XP_016866594.1:p.Gln2091Glu | |
| XM_017011106.2:c.6142C>G | XP_016866595.1:p.Gln2048Glu | |
| XM_017011107.2:c.6121C>G | XP_016866596.1:p.Gln2041Glu | |
| XR_002956289.1:n.6416C>G | ||
| NM_001363725.2:c.3970C>G | NP_001350654.1:p.Gln1324Glu | |
| NM_001371656.1:c.6349C>G | NP_001358585.1:p.Gln2117Glu | |
| NM_001374820.1:c.6349C>G | NP_001361749.1:p.Gln2117Glu | |
| NM_001374828.1:c.6469C>G MANE Select | NP_001361757.1:p.Gln2157Glu | |
| NM_017519.3:c.6310C>G | NP_059989.3:p.Gln2104Glu |