ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01405649 (EAS)
Genomes Max Group AF
0.00734543 (EAS)
Exomes Max Group AF
0.01472457 (EAS)
Revel Score:
ENST00000428075
0.436
ENST00000406386
0.188
ENST00000407319
0.188
ENST00000403663
0.188
ENST00000418339
0.188
ENST00000417857
0.188
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37757689C>T , CM000684.2:g.37757689C>T | GRCh38 |
| NC_000022.10:g.38153696C>T , CM000684.1:g.38153696C>T | GRCh37 |
| NC_000022.9:g.36483642C>T | NCBI36 |
| NG_012857.1:g.65702C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407319.7:c.625C>T | ENSP00000383913.2:p.Arg209Trp | |
| ENST00000644935.1:c.5764C>T MANE Select | ENSP00000496394.1:p.Arg1922Trp | |
| ENST00000344404.10:c.*5247C>T | ENSP00000340312.6:n.*5247C>T | |
| ENST00000403663.6:c.625C>T | ENSP00000386026.2:p.Arg209Trp | |
| ENST00000406386.7:c.5764C>T | ENSP00000384312.3:p.Arg1922Trp | |
| ENST00000407319.6:c.625C>T | ENSP00000383913.2:p.Arg209Trp | |
| ENST00000413051.2:c.630C>T | ENSP00000400680.2:n.630C>T | |
| ENST00000417857.1:c.412C>T | ENSP00000387881.1:p.Arg138Trp | |
| ENST00000418339.5:c.502C>T | ENSP00000396946.1:p.Arg168Trp | |
| ENST00000428075.5:c.485C>T | ||
| NM_001039141.2:c.5764C>T | NP_001034230.1:p.Arg1922Trp | |
| NM_007032.5:c.625C>T | NP_008963.3:p.Arg209Trp | |
| NM_138632.2:c.625C>T | NP_619538.2:p.Arg209Trp | |
| NM_001039141.3:c.5764C>T MANE Select | NP_001034230.1:p.Arg1922Trp |