Revel Score:
ENST00000553947
0.493
ENST00000393078 (MANE Select)
0.493
ENST00000393080
0.493
ENST00000467132
0.493
ENST00000482740
0.493
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02380636 (EAS)
Genomes Max Group AF
0.00792443 (EAS)
Exomes Max Group AF
0.02561067 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94623782A>G , CM000676.2:g.94623782A>G | GRCh38 |
| NC_000014.8:g.95090119A>G , CM000676.1:g.95090119A>G | GRCh37 |
| NC_000014.7:g.94159872A>G | NCBI36 |
| NG_012879.1:g.16406A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393078.5:c.1240A>G MANE Select | ENSP00000376793.3:p.Met414Val | |
| ENST00000393078.4:c.1240A>G | ENSP00000376793.3:p.Met414Val | |
| ENST00000393080.8:c.1240A>G | ENSP00000376795.4:p.Met414Val | |
| ENST00000467132.5:c.1240A>G | ENSP00000450540.1:p.Met414Val | |
| ENST00000482740.2:c.586A>G | ENSP00000451119.1:p.Met196Val | |
| ENST00000553947.1:c.2203A>G | ||
| ENST00000556968.2:c.*315A>G | ENSP00000452476.1:n.*315A>G | |
| NM_001085.4:c.1240A>G | NP_001076.2:p.Met414Val | |
| NM_001085.5:c.1240A>G MANE Select | NP_001076.2:p.Met414Val | |
| NM_001384672.1:c.1240A>G | NP_001371601.1:p.Met414Val | |
| NM_001384673.1:c.1240A>G | NP_001371602.1:p.Met414Val | |
| NM_001384674.1:c.1240A>G | NP_001371603.1:p.Met414Val |