Linked Data
ClinVar Variation Id:
535721
dbSNP Id:
rs368155350
ExAC:
2:179498554 C / A
gnomAD v2:
2-179498554-C-A
gnomAD v3:
2-178633827-C-A
gnomAD v4:
2-178633827-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178633827C>A , CM000664.2:g.178633827C>A | GRCh38 |
| NC_000002.11:g.179498554C>A , CM000664.1:g.179498554C>A | GRCh37 |
| NC_000002.10:g.179206799C>A | NCBI36 |
| NG_011618.3:g.201976G>T , LRG_391:g.201976G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.34968G>T | ENSP00000343764.6:p.Leu11656= | |
| ENST00000342175.11:c.16053G>T | ENSP00000340554.6:p.Leu5351= | |
| ENST00000359218.10:c.15852G>T | ENSP00000352154.5:p.Leu5284= | |
| ENST00000342175.10:c.16053G>T | ENSP00000340554.6:p.Leu5351= | |
| ENST00000342992.10:c.34968G>T | ENSP00000343764.6:p.Leu11656= | |
| ENST00000359218.9:c.15852G>T | ENSP00000352154.5:p.Leu5284= | |
| ENST00000460472.6:c.15477G>T | ENSP00000434586.1:p.Leu5159= | |
| ENST00000589042.5:c.42672G>T MANE Select | ENSP00000467141.1:p.Leu14224= | |
| ENST00000591111.5:c.37749G>T | ENSP00000465570.1:p.Leu12583= | |
| ENST00000615779.4:c.37749G>T | ENSP00000483597.1:p.Leu12583= | |
| NM_001256850.1:c.37749G>T | NP_001243779.1:p.Leu12583= | |
| NM_001267550.2:c.42672G>T MANE Select | NP_001254479.2:p.Leu14224= | |
| NM_003319.4:c.15477G>T | NP_003310.4:p.Leu5159= | |
| NM_133378.4:c.34968G>T | NP_596869.4:p.Leu11656= | |
| NM_133432.3:c.15852G>T | NP_597676.3:p.Leu5284= | |
| NM_133437.4:c.16053G>T | NP_597681.4:p.Leu5351= | |
| XM_011511729.1:c.41769G>T | XP_011510031.1:p.Leu13923= | |
| XM_011511730.1:c.15663G>T | XP_011510032.1:p.Leu5221= | |
| XM_011511731.1:c.15522G>T | XP_011510033.1:p.Leu5174= | |
| XM_017004819.1:c.41565G>T | XP_016860308.1:p.Leu13855= | |
| XM_017004820.1:c.36963G>T | XP_016860309.1:p.Leu12321= | |
| XM_017004821.1:c.36960G>T | XP_016860310.1:p.Leu12320= | |
| XM_017004822.1:c.34002G>T | XP_016860311.1:p.Leu11334= | |
| XM_017004823.1:c.15618G>T | XP_016860312.1:p.Leu5206= | |
| XM_024453094.1:c.37113G>T | XP_024308862.1:p.Leu12371= | |
| XM_024453095.1:c.37110G>T | XP_024308863.1:p.Leu12370= | |
| XM_024453096.1:c.36543G>T | XP_024308864.1:p.Leu12181= | |
| XM_024453097.1:c.33885G>T | XP_024308865.1:p.Leu11295= | |
| XM_024453098.1:c.33804G>T | XP_024308866.1:p.Leu11268= | |
| XM_024453099.1:c.15567G>T | XP_024308867.1:p.Leu5189= | |
| XM_024453100.1:c.5421G>T | XP_024308868.1:p.Leu1807= |