Linked Data
ClinVar Variation Id:
282524
dbSNP Id:
rs768244114
ExAC:
2:179496968 A / G
gnomAD v2:
2-179496968-A-G
gnomAD v4:
2-178632241-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178632241A>G , CM000664.2:g.178632241A>G | GRCh38 |
| NC_000002.11:g.179496968A>G , CM000664.1:g.179496968A>G | GRCh37 |
| NC_000002.10:g.179205213A>G | NCBI36 |
| NG_011618.3:g.203562T>C , LRG_391:g.203562T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35949T>C | ENSP00000343764.6:p.His11983= | |
| ENST00000342175.11:c.17034T>C | ENSP00000340554.6:p.His5678= | |
| ENST00000359218.10:c.16833T>C | ENSP00000352154.5:p.His5611= | |
| ENST00000342175.10:c.17034T>C | ENSP00000340554.6:p.His5678= | |
| ENST00000342992.10:c.35949T>C | ENSP00000343764.6:p.His11983= | |
| ENST00000359218.9:c.16833T>C | ENSP00000352154.5:p.His5611= | |
| ENST00000460472.6:c.16458T>C | ENSP00000434586.1:p.His5486= | |
| ENST00000589042.5:c.43653T>C MANE Select | ENSP00000467141.1:p.His14551= | |
| ENST00000591111.5:c.38730T>C | ENSP00000465570.1:p.His12910= | |
| ENST00000615779.4:c.38730T>C | ENSP00000483597.1:p.His12910= | |
| NM_001256850.1:c.38730T>C | NP_001243779.1:p.His12910= | |
| NM_001267550.2:c.43653T>C MANE Select | NP_001254479.2:p.His14551= | |
| NM_003319.4:c.16458T>C | NP_003310.4:p.His5486= | |
| NM_133378.4:c.35949T>C | NP_596869.4:p.His11983= | |
| NM_133432.3:c.16833T>C | NP_597676.3:p.His5611= | |
| NM_133437.4:c.17034T>C | NP_597681.4:p.His5678= | |
| XM_011511729.1:c.42750T>C | XP_011510031.1:p.His14250= | |
| XM_011511730.1:c.16644T>C | XP_011510032.1:p.His5548= | |
| XM_011511731.1:c.16503T>C | XP_011510033.1:p.His5501= | |
| XM_017004819.1:c.42546T>C | XP_016860308.1:p.His14182= | |
| XM_017004820.1:c.37944T>C | XP_016860309.1:p.His12648= | |
| XM_017004821.1:c.37941T>C | XP_016860310.1:p.His12647= | |
| XM_017004822.1:c.34983T>C | XP_016860311.1:p.His11661= | |
| XM_017004823.1:c.16599T>C | XP_016860312.1:p.His5533= | |
| XM_024453094.1:c.38094T>C | XP_024308862.1:p.His12698= | |
| XM_024453095.1:c.38091T>C | XP_024308863.1:p.His12697= | |
| XM_024453096.1:c.37524T>C | XP_024308864.1:p.His12508= | |
| XM_024453097.1:c.34866T>C | XP_024308865.1:p.His11622= | |
| XM_024453098.1:c.34785T>C | XP_024308866.1:p.His11595= | |
| XM_024453099.1:c.16548T>C | XP_024308867.1:p.His5516= | |
| XM_024453100.1:c.6402T>C | XP_024308868.1:p.His2134= |