Linked Data
ClinVar Variation Id:
263480
dbSNP Id:
rs201390600
ExAC:
2:179495789 A / C
gnomAD v2:
2-179495789-A-C
gnomAD v3:
2-178631062-A-C
gnomAD v4:
2-178631062-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178631062A>C , CM000664.2:g.178631062A>C | GRCh38 |
| NC_000002.11:g.179495789A>C , CM000664.1:g.179495789A>C | GRCh37 |
| NC_000002.10:g.179204034A>C | NCBI36 |
| NG_011618.3:g.204741T>G , LRG_391:g.204741T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.36282T>G | ENSP00000343764.6:p.Asp12094Glu | |
| ENST00000342175.11:c.17367T>G | ENSP00000340554.6:p.Asp5789Glu | |
| ENST00000359218.10:c.17166T>G | ENSP00000352154.5:p.Asp5722Glu | |
| ENST00000342175.10:c.17367T>G | ENSP00000340554.6:p.Asp5789Glu | |
| ENST00000342992.10:c.36282T>G | ENSP00000343764.6:p.Asp12094Glu | |
| ENST00000359218.9:c.17166T>G | ENSP00000352154.5:p.Asp5722Glu | |
| ENST00000460472.6:c.16791T>G | ENSP00000434586.1:p.Asp5597Glu | |
| ENST00000589042.5:c.43986T>G MANE Select | ENSP00000467141.1:p.Asp14662Glu | |
| ENST00000591111.5:c.39063T>G | ENSP00000465570.1:p.Asp13021Glu | |
| ENST00000615779.4:c.39063T>G | ENSP00000483597.1:p.Asp13021Glu | |
| NM_001256850.1:c.39063T>G | NP_001243779.1:p.Asp13021Glu | |
| NM_001267550.2:c.43986T>G MANE Select | NP_001254479.2:p.Asp14662Glu | |
| NM_003319.4:c.16791T>G | NP_003310.4:p.Asp5597Glu | |
| NM_133378.4:c.36282T>G | NP_596869.4:p.Asp12094Glu | |
| NM_133432.3:c.17166T>G | NP_597676.3:p.Asp5722Glu | |
| NM_133437.4:c.17367T>G | NP_597681.4:p.Asp5789Glu | |
| XM_011511729.1:c.43083T>G | XP_011510031.1:p.Asp14361Glu | |
| XM_011511730.1:c.16977T>G | XP_011510032.1:p.Asp5659Glu | |
| XM_011511731.1:c.16836T>G | XP_011510033.1:p.Asp5612Glu | |
| XM_017004819.1:c.42879T>G | XP_016860308.1:p.Asp14293Glu | |
| XM_017004820.1:c.38277T>G | XP_016860309.1:p.Asp12759Glu | |
| XM_017004821.1:c.38274T>G | XP_016860310.1:p.Asp12758Glu | |
| XM_017004822.1:c.35316T>G | XP_016860311.1:p.Asp11772Glu | |
| XM_017004823.1:c.16932T>G | XP_016860312.1:p.Asp5644Glu | |
| XM_024453094.1:c.38427T>G | XP_024308862.1:p.Asp12809Glu | |
| XM_024453095.1:c.38424T>G | XP_024308863.1:p.Asp12808Glu | |
| XM_024453096.1:c.37857T>G | XP_024308864.1:p.Asp12619Glu | |
| XM_024453097.1:c.35199T>G | XP_024308865.1:p.Asp11733Glu | |
| XM_024453098.1:c.35118T>G | XP_024308866.1:p.Asp11706Glu | |
| XM_024453099.1:c.16881T>G | XP_024308867.1:p.Asp5627Glu | |
| XM_024453100.1:c.6735T>G | XP_024308868.1:p.Asp2245Glu |