Revel Score:
ENST00000348295
0.071
ENST00000382578
0.071
ENST00000382565
0.071
ENST00000382563
0.071
ENST00000544772
0.071
ENST00000328354
0.071
ENST00000404276 (MANE Select)
0.071
ENST00000405598
0.071
ENST00000382580
0.071
ENST00000403642
0.071
ENST00000402731
0.071
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28689155G>C , CM000684.2:g.28689155G>C | GRCh38 |
| NC_000022.10:g.29085143G>C , CM000684.1:g.29085143G>C | GRCh37 |
| NC_000022.9:g.27415143G>C | NCBI36 |
| NG_008150.1:g.57680C>G | |
| NG_008150.2:g.57712C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711048.1:c.*257C>G | ENSP00000518557.1:n.*257C>G | |
| ENST00000402731.6:c.1321C>G | ENSP00000384835.2:p.Leu441Val | |
| ENST00000404276.6:c.1522C>G MANE Select | ENSP00000385747.1:p.Leu508Val | |
| ENST00000425190.7:c.859C>G | ENSP00000390244.2:p.Leu287Val | |
| ENST00000464581.6:c.862C>G | ENSP00000483777.2:p.Leu288Val | |
| ENST00000648295.1:n.1074C>G | ||
| ENST00000649563.1:c.859C>G | ENSP00000496928.1:p.Leu287Val | |
| ENST00000650281.1:c.1522C>G | ENSP00000497000.1:p.Leu508Val | |
| ENST00000328354.10:c.1522C>G | ENSP00000329178.6:p.Leu508Val | |
| ENST00000348295.7:c.1435C>G | ENSP00000329012.5:p.Leu479Val | |
| ENST00000382580.6:c.1651C>G | ENSP00000372023.2:p.Leu551Val | |
| ENST00000402731.5:c.1435C>G | ENSP00000384835.1:p.Leu479Val | |
| ENST00000403642.5:c.1249C>G | ENSP00000384919.1:p.Leu417Val | |
| ENST00000404276.5:c.1522C>G | ENSP00000385747.1:p.Leu508Val | |
| ENST00000405598.5:c.1522C>G | ENSP00000386087.1:p.Leu508Val | |
| ENST00000416671.5:c.*1012C>G | ENSP00000402225.1:n.*1012C>G | |
| ENST00000417588.5:c.1431C>G | ENSP00000412901.1:n.1431C>G | |
| ENST00000433728.5:c.1460C>G | ENSP00000404400.1:n.1460C>G | |
| ENST00000434810.5:c.720C>G | ||
| ENST00000448511.5:c.1412C>G | ENSP00000404567.1:n.1412C>G | |
| ENST00000456369.5:c.324C>G | ||
| ENST00000472807.1:n.256C>G | ||
| NM_001005735.1:c.1651C>G | NP_001005735.1:p.Leu551Val | |
| NM_001257387.1:c.859C>G | NP_001244316.1:p.Leu287Val | |
| NM_007194.3:c.1522C>G | NP_009125.1:p.Leu508Val | |
| NM_145862.2:c.1435C>G | NP_665861.1:p.Leu479Val | |
| XM_006724114.2:c.1042C>G | XP_006724177.1:p.Leu348Val | |
| XM_006724116.2:c.979C>G | XP_006724179.2:p.Leu327Val | |
| XM_011529839.1:c.1681C>G | XP_011528141.1:p.Leu561Val | |
| XM_011529840.1:c.1594C>G | XP_011528142.1:p.Leu532Val | |
| XM_011529841.1:c.1450C>G | XP_011528143.1:p.Leu484Val | |
| XM_011529842.1:c.1351C>G | XP_011528144.1:p.Leu451Val | |
| XM_011529843.1:c.1321C>G | XP_011528145.1:p.Leu441Val | |
| XM_011529845.1:c.859C>G | XP_011528147.1:p.Leu287Val | |
| XR_937805.1:n.1681C>G | ||
| NM_001349956.1:c.1321C>G | NP_001336885.1:p.Leu441Val | |
| NM_007194.4:c.1522C>G MANE Select | NP_009125.1:p.Leu508Val | |
| XM_006724114.3:c.1075C>G | XP_006724177.2:p.Leu359Val | |
| XM_011529839.2:c.1681C>G | XP_011528141.1:p.Leu561Val | |
| XM_011529840.3:c.1594C>G | XP_011528142.1:p.Leu532Val | |
| XM_011529842.2:c.1351C>G | XP_011528144.1:p.Leu451Val | |
| XM_011529845.2:c.859C>G | XP_011528147.1:p.Leu287Val | |
| XM_017028560.1:c.1645C>G | XP_016884049.1:p.Leu549Val | |
| XM_017028561.2:c.859C>G | XP_016884050.1:p.Leu287Val | |
| XM_024452148.1:c.1552C>G | XP_024307916.1:p.Leu518Val | |
| XM_024452149.1:c.1465C>G | XP_024307917.1:p.Leu489Val | |
| XR_937805.2:n.1692C>G | ||
| NM_001005735.2:c.1651C>G | NP_001005735.1:p.Leu551Val | |
| NM_001257387.2:c.859C>G | NP_001244316.1:p.Leu287Val | |
| NM_001349956.2:c.1321C>G | NP_001336885.1:p.Leu441Val |