Revel Score:
ENST00000268124 (MANE Select)
0.271
ENST00000442287
0.271
gnomAD v2:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89326725G>C , CM000677.2:g.89326725G>C | GRCh38 |
| NC_000015.9:g.89869956G>C , CM000677.1:g.89869956G>C | GRCh37 |
| NC_000015.8:g.87670960G>C | NCBI36 |
| NG_008218.1:g.13071C>G | |
| NG_008218.2:g.13071C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1599C>G | ENSP00000516154.1:p.Cys533Trp | |
| ENST00000268124.11:c.1599C>G MANE Select | ENSP00000268124.5:p.Cys533Trp | |
| ENST00000530292.3:c.1200C>G | ENSP00000432885.2:p.Cys400Trp | |
| ENST00000635986.2:c.1599C>G | ENSP00000490653.2:p.Cys533Trp | |
| ENST00000636774.1:c.*166C>G | ENSP00000489799.1:n.*166C>G | |
| ENST00000637238.1:c.336C>G | ENSP00000490756.1:p.Cys112Trp | |
| ENST00000637264.1:c.671C>G | ||
| ENST00000666746.1:c.1176C>G | ||
| ENST00000672071.1:n.1797C>G | ||
| ENST00000672923.2:n.1702C>G | ||
| ENST00000268124.9:c.1599C>G | ENSP00000268124.5:p.Cys533Trp | |
| ENST00000442287.6:c.1599C>G | ENSP00000399851.2:p.Cys533Trp | |
| ENST00000631044.2:c.*982C>G | ENSP00000486730.1:n.*982C>G | |
| NM_001126131.1:c.1599C>G | NP_001119603.1:p.Cys533Trp | |
| NM_002693.2:c.1599C>G | NP_002684.1:p.Cys533Trp | |
| NM_001126131.2:c.1599C>G | NP_001119603.1:p.Cys533Trp | |
| NM_002693.3:c.1599C>G MANE Select | NP_002684.1:p.Cys533Trp |