Linked Data
ClinVar Variation Id:
642352
dbSNP Id:
rs1179946635
gnomAD v2:
1-33245822-G-A
gnomAD v4:
1-32780221-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.32780221G>A , CM000663.2:g.32780221G>A | GRCh38 |
| NC_000001.10:g.33245822G>A , CM000663.1:g.33245822G>A | GRCh37 |
| NC_000001.9:g.33018409G>A | NCBI36 |
| NG_008408.1:g.42812C>T , LRG_273:g.42812C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675785.2:c.1051C>T | ENSP00000502019.1:p.Arg351Trp | |
| ENST00000373477.9:c.1198C>T MANE Select | ENSP00000362576.4:p.Arg400Trp | |
| ENST00000674629.1:c.*746C>T | ENSP00000502470.1:n.*746C>T | |
| ENST00000674654.1:c.*1158C>T | ENSP00000501729.1:n.*1158C>T | |
| ENST00000675785.1:c.1051C>T | ENSP00000502019.1:p.Arg351Trp | |
| ENST00000676297.1:c.*1372C>T | ENSP00000501596.1:n.*1372C>T | |
| ENST00000373477.8:c.1198C>T | ENSP00000362576.4:p.Arg400Trp | |
| ENST00000469100.5:n.1114C>T | ||
| ENST00000478828.1:n.665C>T | ||
| ENST00000487404.5:n.1508C>T | ||
| ENST00000490826.1:n.491C>T | ||
| NM_003680.3:c.1198C>T , LRG_273t1:c.1198C>T | NP_003671.1:p.Arg400Trp | |
| XM_011542347.1:c.568C>T | XP_011540649.1:p.Arg190Trp | |
| XM_011542348.1:c.568C>T | XP_011540650.1:p.Arg190Trp | |
| XM_011542347.2:c.568C>T | XP_011540649.1:p.Arg190Trp | |
| XM_017002651.2:c.568C>T | XP_016858140.1:p.Arg190Trp | |
| NM_003680.4:c.1198C>T MANE Select | NP_003671.1:p.Arg400Trp |