Revel Score:
ENST00000293970
0.351
ENST00000434757
0.351
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00012636 (EAS)
Genomes Max Group AF
0.0002631 (EAS)
Exomes Max Group AF
0.00006894 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2500464C>T , CM000678.2:g.2500464C>T | GRCh38 |
| NC_000016.9:g.2550465C>T , CM000678.1:g.2550465C>T | GRCh37 |
| NC_000016.8:g.2490466C>T | NCBI36 |
| NG_028170.1:g.30319C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567020.6:c.1481C>T | ENSP00000454408.1:p.Ala494Val | |
| ENST00000569874.2:c.1481C>T | ENSP00000455005.2:p.Ala494Val | |
| ENST00000646147.1:c.1499C>T MANE Select | ENSP00000494678.1:p.Ala500Val | |
| ENST00000293970.9:c.1499C>T | ENSP00000293970.5:p.Ala500Val | |
| ENST00000564543.1:c.965+3351C>T | ENSP00000455547.1:n.965+3351C>T | |
| ENST00000564879.2:c.368C>T | ||
| ENST00000567020.5:c.1481C>T | ENSP00000454408.1:p.Ala494Val | |
| ENST00000627285.1:c.1481C>T | ENSP00000486121.1:p.Ala494Val | |
| ENST00000630263.2:c.*457C>T | ENSP00000486835.1:n.*457C>T | |
| NM_001199107.1:c.1499C>T | NP_001186036.1:p.Ala500Val | |
| NM_020705.2:c.1481C>T | NP_065756.1:p.Ala494Val | |
| XM_017023493.1:c.1499C>T | XP_016878982.1:p.Ala500Val | |
| XM_017023494.1:c.1481C>T | XP_016878983.1:p.Ala494Val | |
| XM_017023495.1:c.1481C>T | XP_016878984.1:p.Ala494Val | |
| XR_001751956.1:n.1681C>T | ||
| NM_001199107.2:c.1499C>T MANE Select | NP_001186036.1:p.Ala500Val | |
| NM_020705.3:c.1481C>T | NP_065756.1:p.Ala494Val |