Revel Score:
ENST00000355112 (MANE Select)
0.306
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00051085 (NFE)
Genomes Max Group AF
0.00041767 (NFE)
Exomes Max Group AF
0.00050888 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90749459A>T , CM000677.2:g.90749459A>T | GRCh38 |
| NC_000015.9:g.91292689A>T , CM000677.1:g.91292689A>T | GRCh37 |
| NC_000015.8:g.89093693A>T | NCBI36 |
| NG_007272.1:g.37088A>T , LRG_20:g.37088A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.191A>T MANE Select | ENSP00000347232.3:p.Asp64Val | |
| ENST00000648453.1:c.191A>T | ENSP00000497646.1:p.Asp64Val | |
| ENST00000680772.1:c.191A>T | ENSP00000506117.1:p.Asp64Val | |
| ENST00000681142.1:c.191A>T | ENSP00000506682.1:p.Asp64Val | |
| ENST00000355112.7:c.191A>T | ENSP00000347232.3:p.Asp64Val | |
| ENST00000559282.1:n.365A>T | ||
| ENST00000559724.5:c.191A>T | ENSP00000453359.1:p.Asp64Val | |
| ENST00000560509.5:c.191A>T | ENSP00000454158.1:p.Asp64Val | |
| NM_000057.3:c.191A>T | NP_000048.1:p.Asp64Val | |
| NM_001287246.1:c.191A>T | NP_001274175.1:p.Asp64Val | |
| NM_001287247.1:c.191A>T | NP_001274176.1:p.Asp64Val | |
| NM_001287248.1:c.-1101A>T | NP_001274177.1:n.-1101A>T | |
| XM_011521882.1:c.191A>T | XP_011520184.1:p.Asp64Val | |
| XM_011521882.3:c.191A>T | XP_011520184.1:p.Asp64Val | |
| NM_000057.4:c.191A>T MANE Select | NP_000048.1:p.Asp64Val | |
| NM_001287246.2:c.191A>T | NP_001274175.1:p.Asp64Val | |
| NM_001287247.2:c.191A>T | NP_001274176.1:p.Asp64Val | |
| NM_001287248.2:c.-1101A>T | NP_001274177.1:n.-1101A>T |