Linked Data
ClinVar Variation Id:
14287
ClinVar RCV Id:
RCV000015357
dbSNP Id:
rs121913581
gnomAD v4:
1-236897020-G-T
PubMed:
PMID:12068375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236897020G>T , CM000663.2:g.236897020G>T | GRCh38 |
| NC_000001.10:g.237060320G>T , CM000663.1:g.237060320G>T | GRCh37 |
| NC_000001.9:g.235126943G>T | NCBI36 |
| NG_008959.1:g.106740G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366577.10:c.3613G>T MANE Select | ENSP00000355536.5:p.Glu1205Ter | |
| ENST00000470570.2:n.4343G>T | ||
| ENST00000535889.6:c.3460G>T | ENSP00000441845.1:p.Glu1154Ter | |
| ENST00000650888.1:c.*2655G>T | ENSP00000498393.1:n.*2655G>T | |
| ENST00000651455.1:c.*2357G>T | ENSP00000498963.1:n.*2357G>T | |
| ENST00000674797.2:c.3265G>T | ENSP00000502299.2:p.Glu1089Ter | |
| ENST00000679569.1:n.6740G>T | ||
| ENST00000679842.1:c.3424G>T | ENSP00000506109.1:p.Glu1142Ter | |
| ENST00000680454.1:n.6870G>T | ||
| ENST00000681102.1:c.3433G>T | ENSP00000505600.1:p.Glu1145Ter | |
| ENST00000681177.1:c.3175G>T | ENSP00000506327.1:p.Glu1059Ter | |
| ENST00000681937.1:n.3807G>T | ||
| ENST00000366576.3:c.2275G>T | ENSP00000355535.3:p.Glu759Ter | |
| ENST00000366577.9:c.3613G>T | ENSP00000355536.5:p.Glu1205Ter | |
| ENST00000470570.1:n.1225G>T | ||
| ENST00000535889.5:c.3460G>T | ENSP00000441845.1:p.Glu1154Ter | |
| NM_000254.2:c.3613G>T | NP_000245.2:p.Glu1205Ter | |
| NM_001291939.1:c.3460G>T | NP_001278868.1:p.Glu1154Ter | |
| NM_001291940.1:c.2392G>T | NP_001278869.1:p.Glu798Ter | |
| XM_005273141.3:c.3610G>T | XP_005273198.1:p.Glu1204Ter | |
| XM_006711770.1:c.2677G>T | XP_006711833.1:p.Glu893Ter | |
| XM_011544193.1:c.3424G>T | XP_011542495.1:p.Glu1142Ter | |
| XM_011544194.1:c.3781G>T | XP_011542496.1:p.Glu1261Ter | |
| XM_005273141.5:c.3610G>T | XP_005273198.1:p.Glu1204Ter | |
| XM_006711770.3:c.2677G>T | XP_006711833.1:p.Glu893Ter | |
| XM_011544194.3:c.3781G>T | XP_011542496.1:p.Glu1261Ter | |
| XM_017001329.2:c.3628G>T | XP_016856818.1:p.Glu1210Ter | |
| XM_017001330.2:c.3592G>T | XP_016856819.1:p.Glu1198Ter | |
| NM_001291940.2:c.2392G>T | NP_001278869.1:p.Glu798Ter | |
| NM_000254.3:c.3613G>T MANE Select | NP_000245.2:p.Glu1205Ter |