Revel Score:
ENST00000347132 (MANE Select)
0.503
ENST00000509682
0.503
ENST00000443478
0.074
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00268018 (EAS)
Genomes Max Group AF
0.00273252 (EAS)
Exomes Max Group AF
0.00253699 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40818518C>G , CM000663.2:g.40818518C>G | GRCh38 |
| NC_000001.10:g.41284190C>G , CM000663.1:g.41284190C>G | GRCh37 |
| NC_000001.9:g.41056777C>G | NCBI36 |
| NG_008139.1:g.39507C>G | |
| NG_008139.2:g.39507C>G | |
| NG_008139.3:g.39732C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.546C>G MANE Select | ENSP00000262916.6:p.Phe182Leu | |
| ENST00000347132.9:c.546C>G | ENSP00000262916.6:p.Phe182Leu | |
| ENST00000443478.3:c.232C>G | ||
| ENST00000509682.6:c.546C>G | ENSP00000423756.2:p.Phe182Leu | |
| NM_004700.3:c.546C>G | NP_004691.2:p.Phe182Leu | |
| NM_172163.2:c.546C>G | NP_751895.1:p.Phe182Leu | |
| XM_011542417.1:c.546C>G | XP_011540719.1:p.Phe182Leu | |
| XM_011542418.1:c.546C>G | XP_011540720.1:p.Phe182Leu | |
| XM_011542419.1:c.546C>G | XP_011540721.1:p.Phe182Leu | |
| XM_011542420.1:c.546C>G | XP_011540722.1:p.Phe182Leu | |
| XR_946798.1:n.552C>G | ||
| XR_946799.1:n.552C>G | ||
| XR_946800.1:n.552C>G | ||
| NM_004700.4:c.546C>G MANE Select | NP_004691.2:p.Phe182Leu | |
| NM_172163.3:c.546C>G | NP_751895.1:p.Phe182Leu |