Revel Score:
ENST00000426677 (MANE Select)
0.417
ENST00000405636
0.417
ENST00000252487
0.417
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44892457T>G , CM000681.2:g.44892457T>G | GRCh38 |
| NC_000019.9:g.45395714T>G , CM000681.1:g.45395714T>G | GRCh37 |
| NC_000019.8:g.50087554T>G | NCBI36 |
| NG_042854.1:g.6238T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426677.7:c.339T>G MANE Select | ENSP00000410339.1:p.Phe113Leu | |
| ENST00000252487.9:c.339T>G | ENSP00000252487.4:p.Phe113Leu | |
| ENST00000405636.6:c.339T>G | ENSP00000385184.2:p.Phe113Leu | |
| ENST00000426677.6:c.339T>G | ENSP00000410339.1:p.Phe113Leu | |
| ENST00000589649.1:c.339T>G | ENSP00000465032.1:p.Phe113Leu | |
| ENST00000592434.5:c.339T>G | ENSP00000466084.1:p.Phe113Leu | |
| NM_001128916.1:c.339T>G | NP_001122388.1:p.Phe113Leu | |
| NM_001128917.1:c.339T>G | NP_001122389.1:p.Phe113Leu | |
| NM_006114.2:c.339T>G | NP_006105.1:p.Phe113Leu | |
| XM_005258411.2:c.339T>G | XP_005258468.1:p.Phe113Leu | |
| XM_005258411.4:c.339T>G | XP_005258468.1:p.Phe113Leu | |
| NM_001128917.2:c.339T>G MANE Select | NP_001122389.1:p.Phe113Leu | |
| NM_006114.3:c.339T>G | NP_006105.1:p.Phe113Leu | |
| NM_001128916.2:c.339T>G | NP_001122388.1:p.Phe113Leu |