Revel Score:
ENST00000268124 (MANE Select)
0.936
ENST00000442287
0.936
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004368 (SAS)
Exomes Max Group AF
0.00004578 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89319053C>A , CM000677.2:g.89319053C>A | GRCh38 |
| NC_000015.9:g.89862284C>A , CM000677.1:g.89862284C>A | GRCh37 |
| NC_000015.8:g.87663288C>A | NCBI36 |
| NG_008218.1:g.20743G>T | |
| NG_011736.1:g.80091C>A , LRG_500:g.80091C>A | |
| NG_008218.2:g.20743G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3151G>T | ENSP00000516154.1:p.Gly1051Trp | |
| ENST00000268124.11:c.3151G>T MANE Select | ENSP00000268124.5:p.Gly1051Trp | |
| ENST00000530292.3:c.2752G>T | ENSP00000432885.2:p.Gly918Trp | |
| ENST00000635986.2:c.*221G>T | ENSP00000490653.2:n.*221G>T | |
| ENST00000636774.1:c.*1718G>T | ENSP00000489799.1:n.*1718G>T | |
| ENST00000637238.1:c.1960G>T | ENSP00000490756.1:n.1960G>T | |
| ENST00000637264.1:c.2223G>T | ||
| ENST00000666746.1:c.2728G>T | ||
| ENST00000672071.1:n.3349G>T | ||
| ENST00000672695.1:n.328G>T | ||
| ENST00000672923.2:n.3151G>T | ||
| ENST00000268124.9:c.3151G>T | ENSP00000268124.5:p.Gly1051Trp | |
| ENST00000442287.6:c.3151G>T | ENSP00000399851.2:p.Gly1051Trp | |
| ENST00000530292.2:c.235G>T | ENSP00000432885.1:p.Gly79Trp | |
| ENST00000631044.2:c.*2575G>T | ENSP00000486730.1:n.*2575G>T | |
| NM_001126131.1:c.3151G>T | NP_001119603.1:p.Gly1051Trp | |
| NM_002693.2:c.3151G>T | NP_002684.1:p.Gly1051Trp | |
| NM_001126131.2:c.3151G>T | NP_001119603.1:p.Gly1051Trp | |
| NM_002693.3:c.3151G>T MANE Select | NP_002684.1:p.Gly1051Trp |