Linked Data
ClinVar Variation Id:
855801
dbSNP Id:
rs374691663
ExAC:
1:78392561 A / T
gnomAD v2:
1-78392561-A-T
gnomAD v4:
1-77926876-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77926876A>T , CM000663.2:g.77926876A>T | GRCh38 |
| NC_000001.10:g.78392561A>T , CM000663.1:g.78392561A>T | GRCh37 |
| NC_000001.9:g.78165149A>T | NCBI36 |
| NG_016625.1:g.43362A>T , LRG_442:g.43362A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.848A>T MANE Select | ENSP00000333938.7:p.Glu283Val | |
| ENST00000330010.12:c.656A>T | ENSP00000327363.8:p.Glu219Val | |
| ENST00000334785.11:c.848A>T | ENSP00000333938.7:p.Glu283Val | |
| ENST00000342754.5:c.547A>T | ||
| ENST00000401035.7:c.656A>T | ENSP00000383814.3:p.Glu219Val | |
| ENST00000440324.5:c.806A>T | ENSP00000411902.1:p.Glu269Val | |
| ENST00000464998.1:n.308A>T | ||
| NM_001172309.1:c.656A>T | NP_001165780.1:p.Glu219Val | |
| NM_144573.3:c.848A>T , LRG_442t1:c.848A>T | NP_653174.3:p.Glu283Val | |
| XM_005271322.2:c.848A>T | XP_005271379.1:p.Glu283Val | |
| XM_005271323.2:c.806A>T | XP_005271380.1:p.Glu269Val | |
| XM_005271324.3:c.656A>T | XP_005271381.1:p.Glu219Val | |
| XM_005271325.2:c.848A>T | XP_005271382.1:p.Glu283Val | |
| XM_005271326.2:c.614A>T | XP_005271383.1:p.Glu205Val | |
| XM_005271327.2:c.448-2440A>T | XP_005271384.1:n.448-2440A>T | |
| XM_005271322.4:c.848A>T | XP_005271379.1:p.Glu283Val | |
| XM_005271323.4:c.806A>T | XP_005271380.1:p.Glu269Val | |
| XM_005271324.5:c.656A>T | XP_005271381.1:p.Glu219Val | |
| XM_005271325.4:c.848A>T | XP_005271382.1:p.Glu283Val | |
| XM_005271326.4:c.614A>T | XP_005271383.1:p.Glu205Val | |
| XM_005271327.4:c.448-2440A>T | XP_005271384.1:n.448-2440A>T | |
| NM_001172309.2:c.656A>T | NP_001165780.1:p.Glu219Val | |
| NM_144573.4:c.848A>T MANE Select | NP_653174.3:p.Glu283Val |