ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00065188 (EAS)
Genomes Max Group AF
0.00119183 (EAS)
Exomes Max Group AF
0.00048461 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156868588C>T , CM000663.2:g.156868588C>T | GRCh38 |
| NC_000001.10:g.156838380C>T , CM000663.1:g.156838380C>T | GRCh37 |
| NC_000001.9:g.155105004C>T | NCBI36 |
| NG_007493.1:g.57839C>T , LRG_261:g.57839C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.496C>T | ENSP00000502725.1:p.Arg166Trp | |
| ENST00000392302.7:c.496C>T | ENSP00000376120.3:p.Arg166Trp | |
| ENST00000497019.7:c.496C>T | ENSP00000436804.2:p.Arg166Trp | |
| ENST00000524377.7:c.658C>T MANE Select | ENSP00000431418.1:p.Arg220Trp | |
| ENST00000674537.1:c.496C>T | ENSP00000502725.1:p.Arg166Trp | |
| ENST00000358660.3:c.658C>T | ENSP00000351486.3:p.Arg220Trp | |
| ENST00000368196.7:c.658C>T | ENSP00000357179.3:p.Arg220Trp | |
| ENST00000392302.6:c.568C>T | ENSP00000376120.2:p.Arg190Trp | |
| ENST00000489021.6:n.313-5045C>T | ||
| ENST00000497019.6:c.568C>T | ENSP00000436804.1:p.Arg190Trp | |
| ENST00000524377.5:c.658C>T | ENSP00000431418.1:p.Arg220Trp | |
| ENST00000530298.5:n.716C>T | ||
| NM_001007792.1:c.568C>T , LRG_261t1:c.568C>T | NP_001007793.1:p.Arg190Trp | |
| NM_001012331.1:c.658C>T , LRG_261t2:c.658C>T | NP_001012331.1:p.Arg220Trp | |
| NM_002529.3:c.658C>T , LRG_261t3:c.658C>T | NP_002520.2:p.Arg220Trp | |
| NM_001012331.2:c.658C>T | NP_001012331.1:p.Arg220Trp | |
| NM_002529.4:c.658C>T MANE Select | NP_002520.2:p.Arg220Trp |