Linked Data
ClinVar Variation Id:
183287
ClinVar RCV Id:
RCV000162108
dbSNP Id:
rs730882204
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89702026T>C , CM000677.2:g.89702026T>C | GRCh38 |
| NC_000015.9:g.90245257T>C , CM000677.1:g.90245257T>C | GRCh37 |
| NC_000015.8:g.88046261T>C | NCBI36 |
| NG_051641.1:g.16953T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268130.12:c.280T>C MANE Select | ENSP00000268130.7:p.Tyr94His | |
| ENST00000268130.11:c.280T>C | ENSP00000268130.7:p.Tyr94His | |
| ENST00000558000.1:c.280T>C | ENSP00000453022.1:p.Tyr94His | |
| ENST00000560294.5:c.280T>C | ENSP00000453971.1:p.Tyr94His | |
| NM_001284395.1:c.280T>C | NP_001271324.1:p.Tyr94His | |
| NM_001284396.1:c.280T>C | NP_001271325.1:p.Tyr94His | |
| NM_020212.1:c.280T>C | NP_064597.1:p.Tyr94His | |
| XM_006720614.1:c.280T>C | XP_006720677.1:p.Tyr94His | |
| XM_006720615.1:c.280T>C | XP_006720678.1:p.Tyr94His | |
| XM_006720618.2:c.280T>C | XP_006720681.1:p.Tyr94His | |
| XM_011521794.1:c.280T>C | XP_011520096.1:p.Tyr94His | |
| XM_011521795.1:c.280T>C | XP_011520097.1:p.Tyr94His | |
| XM_011521796.1:c.280T>C | XP_011520098.1:p.Tyr94His | |
| XM_011521800.1:c.-98-3528T>C | XP_011520102.1:n.-98-3528T>C | |
| XM_011521801.1:c.-122T>C | XP_011520103.1:n.-122T>C | |
| XM_011521802.1:c.280T>C | XP_011520104.1:p.Tyr94His | |
| XR_931869.1:n.367T>C | ||
| XR_931870.1:n.367T>C | ||
| XM_011521794.2:c.280T>C | XP_011520096.1:p.Tyr94His | |
| XM_011521796.2:c.280T>C | XP_011520098.1:p.Tyr94His | |
| XM_011521802.2:c.280T>C | XP_011520104.1:p.Tyr94His | |
| XM_017022415.1:c.-184T>C | XP_016877904.1:n.-184T>C | |
| XM_017022416.1:c.-33-10000T>C | XP_016877905.1:n.-33-10000T>C | |
| XM_017022417.1:c.280T>C | XP_016877906.1:p.Tyr94His | |
| NM_020212.2:c.280T>C MANE Select | NP_064597.1:p.Tyr94His | |
| NM_001284395.2:c.280T>C | NP_001271324.1:p.Tyr94His | |
| NM_001284396.2:c.280T>C | NP_001271325.1:p.Tyr94His |