Linked Data
ClinVar Variation Id:
2173422
ClinVar RCV Id:
RCV002574602
dbSNP Id:
rs148358555
ExAC:
20:45221044 T / A
gnomAD v2:
20-45221044-T-A
gnomAD v3:
20-46592405-T-A
gnomAD v4:
20-46592405-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46592405T>A , CM000682.2:g.46592405T>A | GRCh38 |
| NC_000020.10:g.45221044T>A , CM000682.1:g.45221044T>A | GRCh37 |
| NC_000020.9:g.44654451T>A | NCBI36 |
| NG_047182.1:g.97081A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279027.9:c.919A>T MANE Select | ENSP00000279027.4:p.Arg307Trp | |
| ENST00000279027.8:c.919A>T | ENSP00000279027.4:p.Arg307Trp | |
| ENST00000290317.9:c.778A>T | ENSP00000290317.5:p.Arg260Trp | |
| ENST00000372121.5:c.628A>T | ENSP00000361193.2:p.Arg210Trp | |
| ENST00000413164.6:c.769A>T | ENSP00000415852.2:p.Arg257Trp | |
| ENST00000420568.5:c.658A>T | ENSP00000395095.1:p.Arg220Trp | |
| ENST00000450298.5:c.407A>T | ||
| ENST00000468915.5:c.778A>T | ENSP00000417784.1:p.Arg260Trp | |
| ENST00000472148.5:c.778A>T | ENSP00000420177.1:p.Arg260Trp | |
| ENST00000495082.5:c.778A>T | ENSP00000419621.1:p.Arg260Trp | |
| NM_001011554.2:c.778A>T | NP_001011554.1:p.Arg260Trp | |
| NM_001193339.1:c.769A>T | NP_001180268.1:p.Arg257Trp | |
| NM_001193340.1:c.778A>T | NP_001180269.1:p.Arg260Trp | |
| NM_001193342.1:c.625A>T | NP_001180271.1:p.Arg209Trp | |
| NM_022829.5:c.919A>T | NP_073740.2:p.Arg307Trp | |
| NM_022829.6:c.919A>T MANE Select | NP_073740.2:p.Arg307Trp | |
| NM_001011554.3:c.778A>T | NP_001011554.1:p.Arg260Trp | |
| NM_001193339.2:c.769A>T | NP_001180268.1:p.Arg257Trp | |
| NM_001193340.2:c.778A>T | NP_001180269.1:p.Arg260Trp | |
| NM_001193342.2:c.625A>T | NP_001180271.1:p.Arg209Trp |