COSMIC:
COSM5020656 (not active)
Revel Score:
ENST00000285021 (MANE Select)
0.093
ENST00000449060
0.093
ENST00000511155
0.093
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03054176 (NFE)
Genomes Max Group AF
0.02759875 (NFE)
Exomes Max Group AF
0.0306654 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14173024G>A , CM000665.2:g.14173024G>A | GRCh38 |
| NC_000003.11:g.14214524G>A , CM000665.1:g.14214524G>A | GRCh37 |
| NC_000003.10:g.14189528G>A | NCBI36 |
| NG_011763.1:g.10649C>T , LRG_472:g.10649C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.142C>T MANE Select | ENSP00000285021.8:p.Leu48Phe | |
| ENST00000285021.11:c.142C>T | ENSP00000285021.7:p.Leu48Phe | |
| ENST00000476581.6:c.142C>T | ENSP00000424548.1:p.Leu48Phe | |
| ENST00000511155.1:c.124C>T | ENSP00000423867.1:p.Leu42Phe | |
| NM_004628.4:c.142C>T , LRG_472t1:c.142C>T | NP_004619.3:p.Leu48Phe | |
| NR_027299.1:n.246C>T | ||
| XM_011534092.1:c.142C>T | XP_011532394.1:p.Leu48Phe | |
| XM_011534093.1:c.142C>T | XP_011532395.1:p.Leu48Phe | |
| NM_001354726.1:c.-314C>T | NP_001341655.1:n.-314C>T | |
| NM_001354727.1:c.142C>T | NP_001341656.1:p.Leu48Phe | |
| NM_001354729.1:c.124C>T | NP_001341658.1:p.Leu42Phe | |
| NM_001354730.1:c.142C>T | NP_001341659.1:p.Leu48Phe | |
| NR_148950.1:n.246C>T | ||
| NR_148951.1:n.246C>T | ||
| XR_001740256.2:n.175C>T | ||
| XR_002959580.1:n.175C>T | ||
| XR_002959581.1:n.175C>T | ||
| NM_001354727.2:c.142C>T | NP_001341656.1:p.Leu48Phe | |
| NM_004628.5:c.142C>T MANE Select | NP_004619.3:p.Leu48Phe | |
| NR_148950.2:n.175C>T | ||
| NR_148951.2:n.175C>T | ||
| NM_001354726.2:c.-314C>T | NP_001341655.1:n.-314C>T | |
| NM_001354729.2:c.124C>T | NP_001341658.1:p.Leu42Phe | |
| NM_001354730.2:c.142C>T | NP_001341659.1:p.Leu48Phe |