Revel Score:
ENST00000229769 (MANE Select)
0.048
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00219922 (AFR)
Genomes Max Group AF
0.00277836 (AFR)
Exomes Max Group AF
0.00124216 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35455782A>G , CM000668.2:g.35455782A>G | GRCh38 |
| NC_000006.11:g.35423559A>G , CM000668.1:g.35423559A>G | GRCh37 |
| NC_000006.10:g.35531537A>G | NCBI36 |
| NG_011708.1:g.8422A>G , LRG_498:g.8422A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.284A>G | ENSP00000512511.1:p.Gln95Arg | |
| ENST00000696265.1:c.284A>G | ENSP00000512512.1:p.Gln95Arg | |
| ENST00000696266.1:c.2A>G | ENSP00000512513.1:p.Gln1Arg | |
| ENST00000229769.3:c.284A>G MANE Select | ENSP00000229769.2:p.Gln95Arg | |
| ENST00000648059.1:c.284A>G | ENSP00000497902.1:p.Gln95Arg | |
| ENST00000229769.2:c.284A>G | ENSP00000229769.2:p.Gln95Arg | |
| NM_021922.2:c.284A>G , LRG_498t1:c.284A>G | NP_068741.1:p.Gln95Arg | |
| XM_005248885.2:c.284A>G | XP_005248942.1:p.Gln95Arg | |
| XM_005248886.2:c.284A>G | XP_005248943.1:p.Gln95Arg | |
| XM_005248887.2:c.284A>G | XP_005248944.1:p.Gln95Arg | |
| XM_005248888.2:c.284A>G | XP_005248945.1:p.Gln95Arg | |
| XM_011514343.1:c.-11A>G | XP_011512645.1:n.-11A>G | |
| XM_011514344.1:c.-11A>G | XP_011512646.1:n.-11A>G | |
| XM_005248888.3:c.284A>G | XP_005248945.1:p.Gln95Arg | |
| XM_011514343.2:c.-11A>G | XP_011512645.1:n.-11A>G | |
| XR_001743226.1:n.491A>G | ||
| XR_002956267.1:n.491A>G | ||
| NM_021922.3:c.284A>G MANE Select | NP_068741.1:p.Gln95Arg |