Revel Score:
ENST00000371068 (MANE Select)
0.030
ENST00000433625
0.030
ENST00000538167
0.030
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0675 (SAS)
Genomes Max Group AF
0.06660254 (SAS)
Exomes Max Group AF
0.06724261 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52438563G>A , CM000668.2:g.52438563G>A | GRCh38 |
| NC_000006.11:g.52303361G>A , CM000668.1:g.52303361G>A | GRCh37 |
| NC_000006.10:g.52411320G>A | NCBI36 |
| NG_016760.1:g.23368G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.545G>A MANE Select | ENSP00000360107.4:p.Arg182His | |
| ENST00000480623.6:c.545G>A | ENSP00000434498.2:p.Arg182His | |
| ENST00000635760.1:c.221G>A | ENSP00000489765.1:p.Arg74His | |
| ENST00000635812.1:c.545G>A | ENSP00000490859.1:p.Arg182His | |
| ENST00000635866.1:c.*414G>A | ENSP00000489866.1:n.*414G>A | |
| ENST00000635911.1:n.806G>A | ||
| ENST00000635984.1:c.221G>A | ENSP00000489921.1:p.Arg74His | |
| ENST00000635996.1:c.545G>A | ENSP00000490256.1:p.Arg182His | |
| ENST00000636107.1:c.545G>A | ENSP00000489680.1:p.Arg182His | |
| ENST00000636253.1:n.199G>A | ||
| ENST00000636311.1:n.467+109G>A | ||
| ENST00000636343.1:c.211G>A | ||
| ENST00000636379.1:c.286-14125G>A | ENSP00000490622.1:n.286-14125G>A | |
| ENST00000636398.1:c.212G>A | ENSP00000489654.1:p.Arg71His | |
| ENST00000636489.1:c.488G>A | ENSP00000489998.1:p.Arg163His | |
| ENST00000636566.1:c.221G>A | ENSP00000490602.1:p.Arg74His | |
| ENST00000636702.1:c.515G>A | ENSP00000489623.1:p.Arg172His | |
| ENST00000636954.1:c.488G>A | ENSP00000489966.1:p.Arg163His | |
| ENST00000637089.1:c.545G>A | ENSP00000489854.1:p.Arg182His | |
| ENST00000637200.1:c.*561G>A | ENSP00000490567.1:n.*561G>A | |
| ENST00000637263.1:c.545G>A | ENSP00000489700.1:p.Arg182His | |
| ENST00000637340.1:n.1213G>A | ||
| ENST00000637353.1:c.545G>A | ENSP00000490441.1:p.Arg182His | |
| ENST00000637602.1:c.*246G>A | ENSP00000490074.1:n.*246G>A | |
| ENST00000637849.1:n.609G>A | ||
| ENST00000637892.1:n.749G>A | ||
| ENST00000638075.1:c.-74G>A | ENSP00000490711.1:n.-74G>A | |
| ENST00000371068.9:c.545G>A | ENSP00000360107.4:p.Arg182His | |
| ENST00000480623.5:c.545G>A | ENSP00000434498.1:p.Arg182His | |
| ENST00000538167.2:c.488G>A | ENSP00000444521.1:p.Arg163His | |
| NM_001172420.1:c.488G>A | NP_001165891.1:p.Arg163His | |
| NM_018100.3:c.545G>A | NP_060570.2:p.Arg182His | |
| NR_033327.1:n.760G>A | ||
| NM_018100.4:c.545G>A MANE Select | NP_060570.2:p.Arg182His | |
| NM_001172420.2:c.488G>A | NP_001165891.1:p.Arg163His | |
| NR_033327.2:n.614G>A |