COSMIC:
COSM4002478 (not active)
Revel Score:
ENST00000285021 (MANE Select)
0.095
ENST00000449060
0.095
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72232687 (AFR)
Genomes Max Group AF
0.7194625 (AFR)
Exomes Max Group AF
0.72116083 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14145949G>T , CM000665.2:g.14145949G>T | GRCh38 |
| NC_000003.11:g.14187449G>T , CM000665.1:g.14187449G>T | GRCh37 |
| NC_000003.10:g.14162450G>T | NCBI36 |
| NG_011763.1:g.37724C>A , LRG_472:g.37724C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2815C>A MANE Select | ENSP00000285021.8:p.Gln939Lys | |
| ENST00000285021.11:c.2815C>A | ENSP00000285021.7:p.Gln939Lys | |
| ENST00000476581.6:c.*2268C>A | ENSP00000424548.1:n.*2268C>A | |
| ENST00000601399.3:n.689+266G>T | ||
| ENST00000608606.1:c.598+266G>T | ||
| ENST00000626721.1:n.588+266G>T | ||
| NM_004628.4:c.2815C>A , LRG_472t1:c.2815C>A | NP_004619.3:p.Gln939Lys | |
| NR_027299.1:n.2795C>A | ||
| NM_001354726.1:c.2236C>A | NP_001341655.1:p.Gln746Lys | |
| NM_001354727.1:c.2809C>A | NP_001341656.1:p.Gln937Lys | |
| NM_001354729.1:c.2797C>A | NP_001341658.1:p.Gln933Lys | |
| NM_001354730.1:c.2569C>A | NP_001341659.1:p.Gln857Lys | |
| NR_148950.1:n.2758C>A | ||
| NR_148951.1:n.2634C>A | ||
| XR_001740256.2:n.3122C>A | ||
| XR_002959580.1:n.3197C>A | ||
| XR_002959581.1:n.4465C>A | ||
| NM_001354727.2:c.2809C>A | NP_001341656.1:p.Gln937Lys | |
| NM_004628.5:c.2815C>A MANE Select | NP_004619.3:p.Gln939Lys | |
| NR_148950.2:n.2687C>A | ||
| NR_148951.2:n.2563C>A | ||
| NM_001354726.2:c.2236C>A | NP_001341655.1:p.Gln746Lys | |
| NM_001354729.2:c.2797C>A | NP_001341658.1:p.Gln933Lys | |
| NM_001354730.2:c.2569C>A | NP_001341659.1:p.Gln857Lys |