Revel Score:
ENST00000360168
0.498
ENST00000358945
0.498
ENST00000540037
0.498
ENST00000228916 (MANE Select)
0.498
ENST00000543768
0.498
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02354186 (SAS)
Genomes Max Group AF
0.02341313 (AMR)
Exomes Max Group AF
0.02381014 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6349184A>G , CM000674.2:g.6349184A>G | GRCh38 |
| NC_000012.11:g.6458350A>G , CM000674.1:g.6458350A>G | GRCh37 |
| NC_000012.10:g.6328611A>G | NCBI36 |
| NG_011945.1:g.33174T>C | |
| NG_011945.2:g.33174T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.1477T>C MANE Select | ENSP00000228916.2:p.Trp493Arg | |
| ENST00000228916.6:c.1477T>C | ENSP00000228916.2:p.Trp493Arg | |
| ENST00000338748.9:c.*548T>C | ENSP00000345028.5:n.*548T>C | |
| ENST00000360168.7:c.1654T>C | ENSP00000353292.3:p.Trp552Arg | |
| ENST00000396966.6:c.1439+143T>C | ENSP00000380166.2:n.1439+143T>C | |
| ENST00000457871.2:n.424T>C | ||
| ENST00000540037.5:c.577T>C | ENSP00000440876.1:p.Trp193Arg | |
| ENST00000543768.1:c.1546T>C | ENSP00000438739.1:p.Trp516Arg | |
| NM_001038.5:c.1477T>C | NP_001029.1:p.Trp493Arg | |
| NM_001159575.1:c.1546T>C | NP_001153047.1:p.Trp516Arg | |
| NM_001159576.1:c.1654T>C | NP_001153048.1:p.Trp552Arg | |
| XR_001748982.1:n.87+917A>G | ||
| XR_001748983.1:n.87+917A>G | ||
| XR_001748984.1:n.87+917A>G | ||
| NM_001038.6:c.1477T>C MANE Select | NP_001029.1:p.Trp493Arg | |
| NM_001159576.2:c.1654T>C | NP_001153048.1:p.Trp552Arg | |
| NM_001159575.2:c.1546T>C | NP_001153047.1:p.Trp516Arg |