Linked Data
ClinVar Variation Id:
18406
dbSNP Id:
rs267607095
gnomAD v4:
4-55364133-C-T
PubMed:
PMID:20637498
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55364133C>T , CM000666.2:g.55364133C>T | GRCh38 |
| NC_000004.11:g.56230300C>T , CM000666.1:g.56230300C>T | GRCh37 |
| NC_000004.10:g.55925057C>T | NCBI36 |
| NG_028230.1:g.22913C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.424C>T MANE Select | ENSP00000264228.4:p.Arg142Ter | |
| ENST00000677177.2:c.271C>T | ||
| ENST00000677217.1:n.296C>T | ||
| ENST00000678717.1:n.321C>T | ||
| ENST00000679351.1:c.*30C>T | ENSP00000505676.1:n.*30C>T | |
| ENST00000679707.1:c.424C>T | ENSP00000505713.1:p.Arg142Ter | |
| ENST00000679836.1:c.424C>T | ENSP00000506601.1:p.Arg142Ter | |
| ENST00000680700.1:c.424C>T | ENSP00000504926.1:p.Arg142Ter | |
| ENST00000264228.8:c.424C>T | ENSP00000264228.4:p.Arg142Ter | |
| ENST00000505210.1:c.289+4645C>T | ENSP00000424714.1:n.289+4645C>T | |
| ENST00000514398.1:n.433C>T | ||
| NM_024592.4:c.424C>T | NP_078868.1:p.Arg142Ter | |
| XM_005265766.2:c.424C>T | XP_005265823.1:p.Arg142Ter | |
| XM_005265767.2:c.364+4645C>T | XP_005265824.1:n.364+4645C>T | |
| XM_005265766.4:c.424C>T | XP_005265823.1:p.Arg142Ter | |
| XM_005265767.3:c.364+4645C>T | XP_005265824.1:n.364+4645C>T | |
| XM_017008601.1:c.289C>T | XP_016864090.1:p.Arg97Ter | |
| NM_024592.5:c.424C>T MANE Select | NP_078868.1:p.Arg142Ter |