Linked Data
ClinVar Variation Id:
18407
ClinVar RCV Id:
RCV000000893
dbSNP Id:
rs267607092
PubMed:
PMID:20637498
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55364198C>A , CM000666.2:g.55364198C>A | GRCh38 |
| NC_000004.11:g.56230365C>A , CM000666.1:g.56230365C>A | GRCh37 |
| NC_000004.10:g.55925122C>A | NCBI36 |
| NG_028230.1:g.22978C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.489C>A MANE Select | ENSP00000264228.4:p.Tyr163Ter | |
| ENST00000677177.2:c.336C>A | ||
| ENST00000677217.1:n.361C>A | ||
| ENST00000678717.1:n.386C>A | ||
| ENST00000679351.1:c.*95C>A | ENSP00000505676.1:n.*95C>A | |
| ENST00000679707.1:c.489C>A | ENSP00000505713.1:p.Tyr163Ter | |
| ENST00000679836.1:c.489C>A | ENSP00000506601.1:p.Tyr163Ter | |
| ENST00000680700.1:c.489C>A | ENSP00000504926.1:p.Tyr163Ter | |
| ENST00000264228.8:c.489C>A | ENSP00000264228.4:p.Tyr163Ter | |
| ENST00000505210.1:c.289+4710C>A | ENSP00000424714.1:n.289+4710C>A | |
| ENST00000514398.1:n.498C>A | ||
| NM_024592.4:c.489C>A | NP_078868.1:p.Tyr163Ter | |
| XM_005265766.2:c.489C>A | XP_005265823.1:p.Tyr163Ter | |
| XM_005265767.2:c.364+4710C>A | XP_005265824.1:n.364+4710C>A | |
| XM_005265766.4:c.489C>A | XP_005265823.1:p.Tyr163Ter | |
| XM_005265767.3:c.364+4710C>A | XP_005265824.1:n.364+4710C>A | |
| XM_017008601.1:c.354C>A | XP_016864090.1:p.Tyr118Ter | |
| NM_024592.5:c.489C>A MANE Select | NP_078868.1:p.Tyr163Ter |