Revel Score:
ENST00000503569
0.191
ENST00000226760 (MANE Select)
0.191
ENST00000506362
0.038
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013282 (AFR)
Genomes Max Group AF
0.00016626 (AFR)
Exomes Max Group AF
0.00003983 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6295120C>G , CM000666.2:g.6295120C>G | GRCh38 |
| NC_000004.11:g.6296847C>G , CM000666.1:g.6296847C>G | GRCh37 |
| NC_000004.10:g.6347748C>G | NCBI36 |
| NG_011700.1:g.30271C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.828C>G | ENSP00000507852.1:p.Phe276Leu | |
| ENST00000683395.1:c.769C>G | ||
| ENST00000684087.1:c.792C>G | ENSP00000506978.1:p.Phe264Leu | |
| ENST00000506362.2:c.543C>G | ENSP00000424103.2:p.Phe181Leu | |
| ENST00000673642.1:c.591C>G | ENSP00000501242.1:p.Phe197Leu | |
| ENST00000673991.1:c.828C>G | ENSP00000501033.1:p.Phe276Leu | |
| ENST00000226760.5:c.792C>G MANE Select | ENSP00000226760.1:p.Phe264Leu | |
| ENST00000503569.5:c.792C>G | ENSP00000423337.1:p.Phe264Leu | |
| ENST00000506362.1:c.425C>G | ||
| ENST00000507765.1:n.977C>G | ||
| ENST00000513395.1:n.350C>G | ||
| NM_001145853.1:c.792C>G | NP_001139325.1:p.Phe264Leu | |
| NM_006005.3:c.792C>G MANE Select | NP_005996.2:p.Phe264Leu | |
| XM_017008586.1:c.801C>G | XP_016864075.1:p.Phe267Leu |