Revel Score:
ENST00000416691
0.617
ENST00000255468
0.617
ENST00000422759
0.617
ENST00000455146 (MANE Select)
0.617
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00642973 (AFR)
Genomes Max Group AF
0.00551258 (AFR)
Exomes Max Group AF
0.00712404 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39660832A>T , CM000675.2:g.39660832A>T | GRCh38 |
| NC_000013.10:g.40234969A>T , CM000675.1:g.40234969A>T | GRCh37 |
| NC_000013.9:g.39132969A>T | NCBI36 |
| NG_028352.1:g.10206A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455146.8:c.320A>T MANE Select | ENSP00000397441.2:p.Asp107Val | |
| ENST00000356576.8:c.*157A>T | ENSP00000348983.4:n.*157A>T | |
| ENST00000416691.5:c.320A>T | ENSP00000403733.1:p.Asp107Val | |
| ENST00000422759.6:n.385A>T | ||
| ENST00000455146.7:c.320A>T | ENSP00000397441.2:p.Asp107Val | |
| ENST00000536488.5:c.135A>T | ||
| ENST00000543804.5:c.*81A>T | ENSP00000440473.1:n.*81A>T | |
| NM_001145079.1:c.320A>T | NP_001138551.1:p.Asp107Val | |
| NM_020751.2:c.320A>T | NP_065802.1:p.Asp107Val | |
| NR_026745.1:n.485A>T | ||
| XM_011535168.1:c.320A>T | XP_011533470.1:p.Asp107Val | |
| XM_011535169.1:c.164A>T | XP_011533471.1:p.Asp55Val | |
| XM_011535170.1:c.164A>T | XP_011533472.1:p.Asp55Val | |
| NM_020751.3:c.320A>T MANE Select | NP_065802.1:p.Asp107Val | |
| NM_001145079.2:c.320A>T | NP_001138551.1:p.Asp107Val |