Linked Data
ClinVar Variation Id:
14467
ClinVar RCV Id:
RCV000015553
dbSNP Id:
rs121912499
ERepo:
CA248619/MONDO:0011071/008
PubMed:
PMID:11830488
CIViC:
CA248619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34799407G>T , CM000683.2:g.34799407G>T | GRCh38 |
| NC_000021.8:g.36171704G>T , CM000683.1:g.36171704G>T | GRCh37 |
| NC_000021.7:g.35093574G>T | NCBI36 |
| NG_011402.2:g.1190305C>A , LRG_482:g.1190305C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.861C>A MANE Select | ENSP00000501943.1:p.Tyr287Ter | |
| ENST00000300305.7:c.861C>A | ENSP00000300305.3:p.Tyr287Ter | |
| ENST00000344691.8:c.780C>A | ENSP00000340690.4:p.Tyr260Ter | |
| ENST00000399240.5:c.588C>A | ENSP00000382184.1:p.Tyr196Ter | |
| ENST00000437180.5:c.861C>A | ENSP00000409227.1:p.Tyr287Ter | |
| ENST00000482318.5:c.*451C>A | ENSP00000477067.1:n.*451C>A | |
| NM_001001890.2:c.780C>A | NP_001001890.1:p.Tyr260Ter | |
| NM_001754.4:c.861C>A , LRG_482t1:c.861C>A | NP_001745.2:p.Tyr287Ter | |
| XM_005261068.3:c.825C>A | XP_005261125.1:p.Tyr275Ter | |
| XM_005261069.3:c.669C>A | XP_005261126.1:p.Tyr223Ter | |
| XM_011529766.1:c.861C>A | XP_011528068.1:p.Tyr287Ter | |
| XM_011529767.1:c.822C>A | XP_011528069.1:p.Tyr274Ter | |
| XM_011529768.1:c.630C>A | XP_011528070.1:p.Tyr210Ter | |
| XR_937576.1:n.1040C>A | ||
| XM_005261069.4:c.669C>A | XP_005261126.1:p.Tyr223Ter | |
| XM_011529766.2:c.861C>A | XP_011528068.1:p.Tyr287Ter | |
| XM_011529767.2:c.822C>A | XP_011528069.1:p.Tyr274Ter | |
| XM_011529768.2:c.630C>A | XP_011528070.1:p.Tyr210Ter | |
| XM_017028487.1:c.708C>A | XP_016883976.1:p.Tyr236Ter | |
| XR_937576.2:n.1087C>A | ||
| NM_001001890.3:c.780C>A | NP_001001890.1:p.Tyr260Ter | |
| NM_001754.5:c.861C>A MANE Select | NP_001745.2:p.Tyr287Ter |