Revel Score:
ENST00000216951
0.964
ENST00000541098
0.964
ENST00000451957
0.964
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001221 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001175 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34936976T>C , CM000682.2:g.34936976T>C | GRCh38 |
| NC_000020.10:g.33524779T>C , CM000682.1:g.33524779T>C | GRCh37 |
| NC_000020.9:g.32988440T>C | NCBI36 |
| NG_008848.1:g.23823A>G | |
| NG_008848.2:g.24052A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642493.1:c.*363A>G | ENSP00000493524.1:n.*363A>G | |
| ENST00000642498.1:c.656A>G | ENSP00000493631.1:p.Asp219Gly | |
| ENST00000642538.1:c.399A>G | ENSP00000493927.1:p.Ter133Trp | |
| ENST00000643188.1:c.656A>G | ENSP00000493903.1:p.Asp219Gly | |
| ENST00000643443.1:c.*363A>G | ENSP00000495572.1:n.*363A>G | |
| ENST00000643502.1:c.313A>G | ||
| ENST00000643908.1:n.1019A>G | ||
| ENST00000644538.1:n.933A>G | ||
| ENST00000644793.1:c.656A>G | ENSP00000495750.1:p.Asp219Gly | |
| ENST00000645328.1:c.34A>G | ||
| ENST00000645408.1:c.256A>G | ||
| ENST00000645723.1:n.1895A>G | ||
| ENST00000646405.1:c.*141A>G | ENSP00000493744.1:n.*141A>G | |
| ENST00000646497.1:n.603A>G | ||
| ENST00000646502.1:n.1138A>G | ||
| ENST00000646512.1:n.869A>G | ||
| ENST00000646735.1:c.323A>G | ENSP00000493763.1:p.Asp108Gly | |
| ENST00000646766.1:c.*286A>G | ENSP00000494333.1:n.*286A>G | |
| ENST00000651619.1:c.656A>G MANE Select | ENSP00000498303.1:p.Asp219Gly | |
| ENST00000216951.6:c.656A>G | ENSP00000216951.2:p.Asp219Gly | |
| ENST00000451957.2:c.323A>G | ENSP00000407517.2:p.Asp108Gly | |
| NM_000178.2:c.656A>G | NP_000169.1:p.Asp219Gly | |
| XM_005260406.3:c.656A>G | XP_005260463.1:p.Asp219Gly | |
| XM_011528796.1:c.656A>G | XP_011527098.1:p.Asp219Gly | |
| NM_000178.4:c.656A>G MANE Select | NP_000169.1:p.Asp219Gly | |
| NM_001322494.1:c.656A>G | NP_001309423.1:p.Asp219Gly | |
| NM_001322495.1:c.656A>G | NP_001309424.1:p.Asp219Gly |