Revel Score:
ENST00000176643 (MANE Select)
0.912
ENST00000395575
0.912
ENST00000339618
0.912
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19661236G>T , CM000679.2:g.19661236G>T | GRCh38 |
| NC_000017.10:g.19564549G>T , CM000679.1:g.19564549G>T | GRCh37 |
| NC_000017.9:g.19505141G>T | NCBI36 |
| NG_007095.2:g.17486G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176643.11:c.908G>T MANE Select | ENSP00000176643.6:p.Gly303Val | |
| ENST00000395575.7:c.581G>T | ENSP00000378942.3:p.Gly194Val | |
| ENST00000472059.6:c.*466G>T | ENSP00000458397.1:n.*466G>T | |
| ENST00000574078.3:n.237G>T | ||
| ENST00000581518.6:c.908G>T | ENSP00000461916.2:p.Gly303Val | |
| ENST00000582991.6:c.908G>T | ENSP00000464153.1:p.Gly303Val | |
| ENST00000671841.1:n.2587G>T | ||
| ENST00000671878.1:c.908G>T | ENSP00000500516.1:p.Gly303Val | |
| ENST00000672059.1:n.1359G>T | ||
| ENST00000672357.1:c.908G>T | ENSP00000500092.1:p.Gly303Val | |
| ENST00000672465.1:c.908G>T | ENSP00000500517.1:p.Gly303Val | |
| ENST00000672487.1:c.*88G>T | ENSP00000500740.1:n.*88G>T | |
| ENST00000672564.1:n.1129G>T | ||
| ENST00000672567.1:c.799G>T | ||
| ENST00000672608.1:n.1897G>T | ||
| ENST00000672709.1:c.762G>T | ||
| ENST00000673064.1:n.1408G>T | ||
| ENST00000673136.1:c.908G>T | ENSP00000500380.1:p.Gly303Val | |
| ENST00000673472.1:n.1244G>T | ||
| ENST00000673516.1:n.1368G>T | ||
| ENST00000176643.10:c.908G>T | ENSP00000176643.6:p.Gly303Val | |
| ENST00000339618.8:c.908G>T | ENSP00000345774.4:p.Gly303Val | |
| ENST00000395575.6:c.908G>T | ENSP00000378942.2:p.Gly303Val | |
| ENST00000472059.5:c.*466G>T | ENSP00000458397.1:n.*466G>T | |
| ENST00000476965.5:n.658G>T | ||
| ENST00000571537.1:c.401G>T | ENSP00000458942.1:p.Gly134Val | |
| ENST00000574078.2:n.237G>T | ||
| ENST00000578696.1:c.339G>T | ||
| ENST00000579855.5:c.908G>T | ENSP00000463637.1:p.Gly303Val | |
| ENST00000581518.5:c.908G>T | ENSP00000461916.1:p.Gly303Val | |
| ENST00000582991.5:c.908G>T | ENSP00000464153.1:p.Gly303Val | |
| ENST00000630662.2:c.-74G>T | ENSP00000487353.1:n.-74G>T | |
| ENST00000631291.2:c.908G>T | ENSP00000486085.1:p.Gly303Val | |
| NM_000382.2:c.908G>T | NP_000373.1:p.Gly303Val | |
| NM_001031806.1:c.908G>T | NP_001026976.1:p.Gly303Val | |
| XM_011523732.1:c.908G>T | XP_011522034.1:p.Gly303Val | |
| XM_011523733.1:c.908G>T | XP_011522035.1:p.Gly303Val | |
| XM_011523733.2:c.908G>T | XP_011522035.1:p.Gly303Val | |
| XM_017024355.1:c.908G>T | XP_016879844.1:p.Gly303Val | |
| XM_017024356.2:c.908G>T | XP_016879845.1:p.Gly303Val | |
| XM_017024357.1:c.908G>T | XP_016879846.1:p.Gly303Val | |
| XM_017024358.2:c.908G>T | XP_016879847.1:p.Gly303Val | |
| XM_024450651.1:c.329G>T | XP_024306419.1:p.Gly110Val | |
| XM_024450652.1:c.329G>T | XP_024306420.1:p.Gly110Val | |
| NM_000382.3:c.908G>T MANE Select | NP_000373.1:p.Gly303Val | |
| NM_001031806.2:c.908G>T | NP_001026976.1:p.Gly303Val | |
| NM_001369136.1:c.908G>T | NP_001356065.1:p.Gly303Val | |
| NM_001369137.1:c.908G>T | NP_001356066.1:p.Gly303Val | |
| NM_001369138.1:c.908G>T | NP_001356067.1:p.Gly303Val | |
| NM_001369139.1:c.908G>T | NP_001356068.1:p.Gly303Val | |
| NM_001369146.1:c.908G>T | NP_001356075.1:p.Gly303Val | |
| NM_001369148.1:c.329G>T | NP_001356077.1:p.Gly110Val | |
| NM_001369137.2:c.908G>T | NP_001356066.1:p.Gly303Val | |
| NM_001369138.2:c.908G>T | NP_001356067.1:p.Gly303Val | |
| NM_001369146.2:c.908G>T | NP_001356075.1:p.Gly303Val | |
| NM_001369148.2:c.329G>T | NP_001356077.1:p.Gly110Val |