Revel Score:
ENST00000311895 (MANE Select)
0.174
ENST00000389138
0.174
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00175264 (EAS)
Genomes Max Group AF
0.00179475 (EAS)
Exomes Max Group AF
0.00163658 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948330G>A , CM000678.2:g.13948330G>A | GRCh38 |
| NC_000016.9:g.14042187G>A , CM000678.1:g.14042187G>A | GRCh37 |
| NC_000016.8:g.13949688G>A | NCBI36 |
| NG_011442.1:g.33174G>A , LRG_463:g.33174G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2872G>A | ENSP00000507912.1:p.Gly958Arg | |
| ENST00000683962.1:c.*2428G>A | ENSP00000506854.1:n.*2428G>A | |
| ENST00000311895.8:c.2734G>A MANE Select | ENSP00000310520.7:p.Gly912Arg | |
| ENST00000311895.7:c.2734G>A | ENSP00000310520.7:p.Gly912Arg | |
| ENST00000389138.7:n.2011G>A | ||
| NM_005236.2:c.2734G>A , LRG_463t1:c.2734G>A | NP_005227.1:p.Gly912Arg | |
| XM_011522424.1:c.2872G>A | XP_011520726.1:p.Gly958Arg | |
| XM_011522425.1:c.2191G>A | XP_011520727.1:p.Gly731Arg | |
| XM_011522426.1:c.1945G>A | XP_011520728.1:p.Gly649Arg | |
| XM_011522427.1:c.1384G>A | XP_011520729.1:p.Gly462Arg | |
| XR_932805.1:n.2893G>A | ||
| XM_011522424.3:c.2872G>A | XP_011520726.1:p.Gly958Arg | |
| XM_017023043.2:c.1945G>A | XP_016878532.1:p.Gly649Arg | |
| NM_005236.3:c.2734G>A MANE Select | NP_005227.1:p.Gly912Arg |