Revel Score:
ENST00000285021 (MANE Select)
0.146
ENST00000538683
0.146
ENST00000449060
0.146
ENST00000542703
0.146
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00130874 (SAS)
Genomes Max Group AF
0.00028298 (SAS)
Exomes Max Group AF
0.00133924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14158267T>C , CM000665.2:g.14158267T>C | GRCh38 |
| NC_000003.11:g.14199767T>C , CM000665.1:g.14199767T>C | GRCh37 |
| NC_000003.10:g.14174769T>C | NCBI36 |
| NG_011763.1:g.25406A>G , LRG_472:g.25406A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.1616A>G MANE Select | ENSP00000285021.8:p.Glu539Gly | |
| ENST00000285021.11:c.1616A>G | ENSP00000285021.7:p.Glu539Gly | |
| ENST00000476581.6:c.*1069A>G | ENSP00000424548.1:n.*1069A>G | |
| NM_004628.4:c.1616A>G , LRG_472t1:c.1616A>G | NP_004619.3:p.Glu539Gly | |
| NR_027299.1:n.1596A>G | ||
| XM_011534092.1:c.1616A>G | XP_011532394.1:p.Glu539Gly | |
| XM_011534093.1:c.1616A>G | XP_011532395.1:p.Glu539Gly | |
| NM_001354726.1:c.1037A>G | NP_001341655.1:p.Glu346Gly | |
| NM_001354727.1:c.1616A>G | NP_001341656.1:p.Glu539Gly | |
| NM_001354729.1:c.1598A>G | NP_001341658.1:p.Glu533Gly | |
| NM_001354730.1:c.1616A>G | NP_001341659.1:p.Glu539Gly | |
| NR_148950.1:n.1720A>G | ||
| NR_148951.1:n.1596A>G | ||
| XR_001740256.2:n.1649A>G | ||
| XR_002959580.1:n.1649A>G | ||
| XR_002959581.1:n.1649A>G | ||
| NM_001354727.2:c.1616A>G | NP_001341656.1:p.Glu539Gly | |
| NM_004628.5:c.1616A>G MANE Select | NP_004619.3:p.Glu539Gly | |
| NR_148950.2:n.1649A>G | ||
| NR_148951.2:n.1525A>G | ||
| NM_001354726.2:c.1037A>G | NP_001341655.1:p.Glu346Gly | |
| NM_001354729.2:c.1598A>G | NP_001341658.1:p.Glu533Gly | |
| NM_001354730.2:c.1616A>G | NP_001341659.1:p.Glu539Gly |