Revel Score:
ENST00000357039 (MANE Select)
0.681
ENST00000419564
0.681
ENST00000520103
0.681
ENST00000522527
0.681
ENST00000518986
0.681
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00760012 (AFR)
Genomes Max Group AF
0.00719762 (AFR)
Exomes Max Group AF
0.00761454 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76983970T>C , CM000670.2:g.76983970T>C | GRCh38 |
| NC_000008.10:g.77896206T>C , CM000670.1:g.77896206T>C | GRCh37 |
| NC_000008.9:g.78058761T>C | NCBI36 |
| NG_008371.1:g.21319A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357039.9:c.209A>G MANE Select | ENSP00000349543.4:p.Tyr70Cys | |
| ENST00000357039.8:c.209A>G | ENSP00000349543.4:p.Tyr70Cys | |
| ENST00000518986.5:c.209A>G | ENSP00000429304.1:p.Tyr70Cys | |
| ENST00000520103.5:c.209A>G | ENSP00000428590.1:p.Tyr70Cys | |
| ENST00000522527.5:c.209A>G | ENSP00000428638.1:p.Tyr70Cys | |
| NM_000318.2:c.209A>G | NP_000309.1:p.Tyr70Cys | |
| NM_001079867.1:c.209A>G | NP_001073336.1:p.Tyr70Cys | |
| NM_001172086.1:c.209A>G | NP_001165557.1:p.Tyr70Cys | |
| NM_001172087.1:c.209A>G | NP_001165558.1:p.Tyr70Cys | |
| NM_000318.3:c.209A>G MANE Select | NP_000309.2:p.Tyr70Cys | |
| NM_001079867.2:c.209A>G | NP_001073336.2:p.Tyr70Cys | |
| NM_001172086.2:c.209A>G | NP_001165557.2:p.Tyr70Cys | |
| NM_001172087.2:c.209A>G | NP_001165558.2:p.Tyr70Cys |