Revel Score:
ENST00000389857 (MANE Select)
0.042
ENST00000541408
0.042
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00229392 (EAS)
Genomes Max Group AF
0.00240359 (EAS)
Exomes Max Group AF
0.00214731 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91339918C>T , CM000676.2:g.91339918C>T | GRCh38 |
| NC_000014.8:g.91806262C>T , CM000676.1:g.91806262C>T | GRCh37 |
| NC_000014.7:g.90876015C>T | NCBI36 |
| NG_033118.1:g.82927G>A | |
| NG_033118.2:g.82927G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.590G>A MANE Select | ENSP00000374507.6:p.Arg197Gln | |
| ENST00000389857.10:c.590G>A | ENSP00000374507.6:p.Arg197Gln | |
| ENST00000554872.5:n.530G>A | ||
| NM_001080414.3:c.590G>A | NP_001073883.2:p.Arg197Gln | |
| XM_005267691.3:c.590G>A | XP_005267748.1:p.Arg197Gln | |
| XM_011536796.1:c.482G>A | XP_011535098.1:p.Arg161Gln | |
| XR_429316.2:n.718G>A | ||
| XR_943459.1:n.718G>A | ||
| XM_005267691.5:c.590G>A | XP_005267748.1:p.Arg197Gln | |
| XM_011536796.2:c.482G>A | XP_011535098.1:p.Arg161Gln | |
| XM_017021335.2:c.590G>A | XP_016876824.1:p.Arg197Gln | |
| XM_017021337.2:c.590G>A | XP_016876826.1:p.Arg197Gln | |
| XR_429316.4:n.716G>A | ||
| NM_001080414.4:c.590G>A MANE Select | NP_001073883.2:p.Arg197Gln |