Revel Score:
ENST00000285021 (MANE Select)
0.220
ENST00000449060
0.220
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00071506 (NFE)
Genomes Max Group AF
0.00100833 (NFE)
Exomes Max Group AF
0.00068694 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14164841G>C , CM000665.2:g.14164841G>C | GRCh38 |
| NC_000003.11:g.14206341G>C , CM000665.1:g.14206341G>C | GRCh37 |
| NC_000003.10:g.14181345G>C | NCBI36 |
| NG_011763.1:g.18832C>G , LRG_472:g.18832C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.872C>G MANE Select | ENSP00000285021.8:p.Ser291Cys | |
| ENST00000285021.11:c.872C>G | ENSP00000285021.7:p.Ser291Cys | |
| ENST00000455144.6:n.483C>G | ||
| ENST00000476581.6:c.*325C>G | ENSP00000424548.1:n.*325C>G | |
| ENST00000477324.6:n.350C>G | ||
| NM_004628.4:c.872C>G , LRG_472t1:c.872C>G | NP_004619.3:p.Ser291Cys | |
| NR_027299.1:n.852C>G | ||
| XM_011534092.1:c.872C>G | XP_011532394.1:p.Ser291Cys | |
| XM_011534093.1:c.872C>G | XP_011532395.1:p.Ser291Cys | |
| NM_001354726.1:c.293C>G | NP_001341655.1:p.Ser98Cys | |
| NM_001354727.1:c.872C>G | NP_001341656.1:p.Ser291Cys | |
| NM_001354729.1:c.854C>G | NP_001341658.1:p.Ser285Cys | |
| NM_001354730.1:c.872C>G | NP_001341659.1:p.Ser291Cys | |
| NR_148950.1:n.976C>G | ||
| NR_148951.1:n.852C>G | ||
| XR_001740256.2:n.905C>G | ||
| XR_002959580.1:n.905C>G | ||
| XR_002959581.1:n.905C>G | ||
| NM_001354727.2:c.872C>G | NP_001341656.1:p.Ser291Cys | |
| NM_004628.5:c.872C>G MANE Select | NP_004619.3:p.Ser291Cys | |
| NR_148950.2:n.905C>G | ||
| NR_148951.2:n.781C>G | ||
| NM_001354726.2:c.293C>G | NP_001341655.1:p.Ser98Cys | |
| NM_001354729.2:c.854C>G | NP_001341658.1:p.Ser285Cys | |
| NM_001354730.2:c.872C>G | NP_001341659.1:p.Ser291Cys |