Linked Data
ClinVar Variation Id:
526735
ClinVar RCV Id:
RCV002388005
dbSNP Id:
rs200575096
ExAC:
1:156845892 C / T
gnomAD v2:
1-156845892-C-T
gnomAD v3:
1-156876100-C-T
gnomAD v4:
1-156876100-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156876100C>T , CM000663.2:g.156876100C>T | GRCh38 |
| NC_000001.10:g.156845892C>T , CM000663.1:g.156845892C>T | GRCh37 |
| NC_000001.9:g.155112516C>T | NCBI36 |
| NG_007493.1:g.65351C>T , LRG_261:g.65351C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674537.2:c.1342C>T | ENSP00000502725.1:p.Arg448Trp | |
| ENST00000392302.7:c.1342C>T | ENSP00000376120.3:p.Arg448Trp | |
| ENST00000497019.7:c.*114C>T | ENSP00000436804.2:n.*114C>T | |
| ENST00000524377.7:c.1522C>T MANE Select | ENSP00000431418.1:p.Arg508Trp | |
| ENST00000674537.1:c.1342C>T | ENSP00000502725.1:p.Arg448Trp | |
| ENST00000358660.3:c.1513C>T | ENSP00000351486.3:p.Arg505Trp | |
| ENST00000368196.7:c.1504C>T | ENSP00000357179.3:p.Arg502Trp | |
| ENST00000392302.6:c.1414C>T | ENSP00000376120.2:p.Arg472Trp | |
| ENST00000497019.6:c.*114C>T | ENSP00000436804.1:n.*114C>T | |
| ENST00000524377.5:c.1522C>T | ENSP00000431418.1:p.Arg508Trp | |
| ENST00000530298.5:n.1975C>T | ||
| ENST00000534682.1:n.745C>T | ||
| NM_001007792.1:c.1414C>T , LRG_261t1:c.1414C>T | NP_001007793.1:p.Arg472Trp | |
| NM_001012331.1:c.1504C>T , LRG_261t2:c.1504C>T | NP_001012331.1:p.Arg502Trp | |
| NM_002529.3:c.1522C>T , LRG_261t3:c.1522C>T | NP_002520.2:p.Arg508Trp | |
| NM_001012331.2:c.1504C>T | NP_001012331.1:p.Arg502Trp | |
| NM_002529.4:c.1522C>T MANE Select | NP_002520.2:p.Arg508Trp |