Revel Score:
ENST00000406775
0.136
ENST00000342771 (MANE Select)
0.136
ENST00000418686
0.136
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00028324 (SAS)
Genomes Max Group AF
0.00028313 (SAS)
Exomes Max Group AF
0.00025982 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70789909C>G , CM000669.2:g.70789909C>G | GRCh38 |
| NC_000007.13:g.70254895C>G , CM000669.1:g.70254895C>G | GRCh37 |
| NC_000007.12:g.69892831C>G | NCBI36 |
| NG_034133.1:g.1195991C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700075.1:c.619C>G | ENSP00000514784.1:n.619C>G | |
| ENST00000342771.10:c.2693C>G MANE Select | ENSP00000344087.4:p.Ser898Trp | |
| ENST00000449547.6:c.615C>G | ||
| ENST00000644359.1:c.1274C>G | ENSP00000494561.1:p.Ser425Trp | |
| ENST00000644506.1:c.1319C>G | ENSP00000496672.1:p.Ser440Trp | |
| ENST00000644939.1:c.2690C>G | ENSP00000496726.1:p.Ser897Trp | |
| ENST00000646193.1:n.673C>G | ||
| ENST00000647140.1:c.1558C>G | ||
| ENST00000342771.8:c.2693C>G | ENSP00000344087.4:p.Ser898Trp | |
| ENST00000406775.6:c.2621C>G | ENSP00000385263.2:p.Ser874Trp | |
| ENST00000418686.1:c.533C>G | ENSP00000392333.1:p.Ser178Trp | |
| ENST00000449547.5:c.490C>G | ||
| ENST00000611706.4:c.1949C>G | ENSP00000478134.1:p.Ser650Trp | |
| ENST00000615871.4:c.1877C>G | ENSP00000479325.1:p.Ser626Trp | |
| NM_001127231.2:c.2621C>G | NP_001120703.1:p.Ser874Trp | |
| NM_015570.3:c.2693C>G | NP_056385.1:p.Ser898Trp | |
| XM_005250257.1:c.1340C>G | XP_005250314.1:p.Ser447Trp | |
| XM_011516010.1:c.2714C>G | XP_011514312.1:p.Ser905Trp | |
| XM_011516011.1:c.2711C>G | XP_011514313.1:p.Ser904Trp | |
| XM_011516012.1:c.2648C>G | XP_011514314.1:p.Ser883Trp | |
| XM_011516013.1:c.2642C>G | XP_011514315.1:p.Ser881Trp | |
| XM_011516014.1:c.2612C>G | XP_011514316.1:p.Ser871Trp | |
| XM_011516015.1:c.2450C>G | XP_011514317.1:p.Ser817Trp | |
| XM_011516016.1:c.2423C>G | XP_011514318.1:p.Ser808Trp | |
| XM_011516017.1:c.2240C>G | XP_011514319.1:p.Ser747Trp | |
| XM_011516018.1:c.2213C>G | XP_011514320.1:p.Ser738Trp | |
| XM_005250257.2:c.1340C>G | XP_005250314.1:p.Ser447Trp | |
| XM_011516010.2:c.2714C>G | XP_011514312.1:p.Ser905Trp | |
| XM_011516011.2:c.2711C>G | XP_011514313.1:p.Ser904Trp | |
| XM_011516012.2:c.2648C>G | XP_011514314.1:p.Ser883Trp | |
| XM_011516013.2:c.2642C>G | XP_011514315.1:p.Ser881Trp | |
| XM_011516014.2:c.2612C>G | XP_011514316.1:p.Ser871Trp | |
| XM_011516017.2:c.2240C>G | XP_011514319.1:p.Ser747Trp | |
| XM_011516018.2:c.2213C>G | XP_011514320.1:p.Ser738Trp | |
| XM_017011951.2:c.*188C>G | XP_016867440.1:n.*188C>G | |
| NM_001127231.3:c.2621C>G | NP_001120703.1:p.Ser874Trp | |
| NM_015570.4:c.2693C>G MANE Select | NP_056385.1:p.Ser898Trp |