Revel Score:
ENST00000371068 (MANE Select)
0.087
ENST00000433625
0.087
ENST00000538167
0.087
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02329502 (AFR)
Genomes Max Group AF
0.02323631 (AFR)
Exomes Max Group AF
0.02252198 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52452776G>A , CM000668.2:g.52452776G>A | GRCh38 |
| NC_000006.11:g.52317574G>A , CM000668.1:g.52317574G>A | GRCh37 |
| NC_000006.10:g.52425533G>A | NCBI36 |
| NG_016760.1:g.37581G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.662G>A MANE Select | ENSP00000360107.4:p.Arg221His | |
| ENST00000480623.6:c.662G>A | ENSP00000434498.2:p.Arg221His | |
| ENST00000635760.1:c.338G>A | ENSP00000489765.1:p.Arg113His | |
| ENST00000635812.1:c.662G>A | ENSP00000490859.1:p.Arg221His | |
| ENST00000635866.1:c.*531G>A | ENSP00000489866.1:n.*531G>A | |
| ENST00000635911.1:n.923G>A | ||
| ENST00000635984.1:c.338G>A | ENSP00000489921.1:p.Arg113His | |
| ENST00000635996.1:c.662G>A | ENSP00000490256.1:p.Arg221His | |
| ENST00000636107.1:c.662G>A | ENSP00000489680.1:p.Arg221His | |
| ENST00000636253.1:n.316G>A | ||
| ENST00000636311.1:n.556G>A | ||
| ENST00000636343.1:c.328G>A | ||
| ENST00000636379.1:c.374G>A | ENSP00000490622.1:p.Arg125His | |
| ENST00000636398.1:c.329G>A | ENSP00000489654.1:p.Arg110His | |
| ENST00000636489.1:c.605G>A | ENSP00000489998.1:p.Arg202His | |
| ENST00000636702.1:c.632G>A | ENSP00000489623.1:p.Arg211His | |
| ENST00000636954.1:c.605G>A | ENSP00000489966.1:p.Arg202His | |
| ENST00000637089.1:c.662G>A | ENSP00000489854.1:p.Arg221His | |
| ENST00000637200.1:c.*678G>A | ENSP00000490567.1:n.*678G>A | |
| ENST00000637263.1:c.662G>A | ENSP00000489700.1:p.Arg221His | |
| ENST00000637340.1:n.1330G>A | ||
| ENST00000637353.1:c.662G>A | ENSP00000490441.1:p.Arg221His | |
| ENST00000637602.1:c.*363G>A | ENSP00000490074.1:n.*363G>A | |
| ENST00000637849.1:n.726G>A | ||
| ENST00000637892.1:n.866G>A | ||
| ENST00000371068.9:c.662G>A | ENSP00000360107.4:p.Arg221His | |
| ENST00000480623.5:c.662G>A | ENSP00000434498.1:p.Arg221His | |
| ENST00000538167.2:c.605G>A | ENSP00000444521.1:p.Arg202His | |
| NM_001172420.1:c.605G>A | NP_001165891.1:p.Arg202His | |
| NM_018100.3:c.662G>A | NP_060570.2:p.Arg221His | |
| NR_033327.1:n.877G>A | ||
| NM_018100.4:c.662G>A MANE Select | NP_060570.2:p.Arg221His | |
| NM_001172420.2:c.605G>A | NP_001165891.1:p.Arg202His | |
| NR_033327.2:n.731G>A |