Linked Data
ClinVar Variation Id:
283623
dbSNP Id:
rs369992659
ExAC:
2:179486635 A / G
gnomAD v2:
2-179486635-A-G
gnomAD v3:
2-178621908-A-G
gnomAD v4:
2-178621908-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178621908A>G , CM000664.2:g.178621908A>G | GRCh38 |
| NC_000002.11:g.179486635A>G , CM000664.1:g.179486635A>G | GRCh37 |
| NC_000002.10:g.179194880A>G | NCBI36 |
| NG_011618.3:g.213895T>C , LRG_391:g.213895T>C | |
| NG_051363.1:g.104082A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.37310T>C | ENSP00000343764.6:p.Leu12437Pro | |
| ENST00000342175.11:c.18395T>C | ENSP00000340554.6:p.Leu6132Pro | |
| ENST00000359218.10:c.18194T>C | ENSP00000352154.5:p.Leu6065Pro | |
| ENST00000342175.10:c.18395T>C | ENSP00000340554.6:p.Leu6132Pro | |
| ENST00000342992.10:c.37310T>C | ENSP00000343764.6:p.Leu12437Pro | |
| ENST00000359218.9:c.18194T>C | ENSP00000352154.5:p.Leu6065Pro | |
| ENST00000460472.6:c.17819T>C | ENSP00000434586.1:p.Leu5940Pro | |
| ENST00000589042.5:c.45014T>C MANE Select | ENSP00000467141.1:p.Leu15005Pro | |
| ENST00000591111.5:c.40091T>C | ENSP00000465570.1:p.Leu13364Pro | |
| ENST00000615779.4:c.40091T>C | ENSP00000483597.1:p.Leu13364Pro | |
| NM_001256850.1:c.40091T>C | NP_001243779.1:p.Leu13364Pro | |
| NM_001267550.2:c.45014T>C MANE Select | NP_001254479.2:p.Leu15005Pro | |
| NM_003319.4:c.17819T>C | NP_003310.4:p.Leu5940Pro | |
| NM_133378.4:c.37310T>C | NP_596869.4:p.Leu12437Pro | |
| NM_133432.3:c.18194T>C | NP_597676.3:p.Leu6065Pro | |
| NM_133437.4:c.18395T>C | NP_597681.4:p.Leu6132Pro | |
| XM_011511729.1:c.44111T>C | XP_011510031.1:p.Leu14704Pro | |
| XM_011511730.1:c.18005T>C | XP_011510032.1:p.Leu6002Pro | |
| XM_011511731.1:c.17864T>C | XP_011510033.1:p.Leu5955Pro | |
| XM_017004819.1:c.43907T>C | XP_016860308.1:p.Leu14636Pro | |
| XM_017004820.1:c.39305T>C | XP_016860309.1:p.Leu13102Pro | |
| XM_017004821.1:c.39302T>C | XP_016860310.1:p.Leu13101Pro | |
| XM_017004822.1:c.36344T>C | XP_016860311.1:p.Leu12115Pro | |
| XM_017004823.1:c.17960T>C | XP_016860312.1:p.Leu5987Pro | |
| XM_024453094.1:c.39455T>C | XP_024308862.1:p.Leu13152Pro | |
| XM_024453095.1:c.39452T>C | XP_024308863.1:p.Leu13151Pro | |
| XM_024453096.1:c.38885T>C | XP_024308864.1:p.Leu12962Pro | |
| XM_024453097.1:c.36227T>C | XP_024308865.1:p.Leu12076Pro | |
| XM_024453098.1:c.36146T>C | XP_024308866.1:p.Leu12049Pro | |
| XM_024453099.1:c.17909T>C | XP_024308867.1:p.Leu5970Pro | |
| XM_024453100.1:c.7763T>C | XP_024308868.1:p.Leu2588Pro |