Linked Data
ClinVar Variation Id:
404688
dbSNP Id:
rs760643071
ExAC:
2:179498246 A / C
gnomAD v2:
2-179498246-A-C
gnomAD v3:
2-178633519-A-C
gnomAD v4:
2-178633519-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178633519A>C , CM000664.2:g.178633519A>C | GRCh38 |
| NC_000002.11:g.179498246A>C , CM000664.1:g.179498246A>C | GRCh37 |
| NC_000002.10:g.179206491A>C | NCBI36 |
| NG_011618.3:g.202284T>G , LRG_391:g.202284T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35136T>G | ENSP00000343764.6:p.Asp11712Glu | |
| ENST00000342175.11:c.16221T>G | ENSP00000340554.6:p.Asp5407Glu | |
| ENST00000359218.10:c.16020T>G | ENSP00000352154.5:p.Asp5340Glu | |
| ENST00000342175.10:c.16221T>G | ENSP00000340554.6:p.Asp5407Glu | |
| ENST00000342992.10:c.35136T>G | ENSP00000343764.6:p.Asp11712Glu | |
| ENST00000359218.9:c.16020T>G | ENSP00000352154.5:p.Asp5340Glu | |
| ENST00000460472.6:c.15645T>G | ENSP00000434586.1:p.Asp5215Glu | |
| ENST00000589042.5:c.42840T>G MANE Select | ENSP00000467141.1:p.Asp14280Glu | |
| ENST00000591111.5:c.37917T>G | ENSP00000465570.1:p.Asp12639Glu | |
| ENST00000615779.4:c.37917T>G | ENSP00000483597.1:p.Asp12639Glu | |
| NM_001256850.1:c.37917T>G | NP_001243779.1:p.Asp12639Glu | |
| NM_001267550.2:c.42840T>G MANE Select | NP_001254479.2:p.Asp14280Glu | |
| NM_003319.4:c.15645T>G | NP_003310.4:p.Asp5215Glu | |
| NM_133378.4:c.35136T>G | NP_596869.4:p.Asp11712Glu | |
| NM_133432.3:c.16020T>G | NP_597676.3:p.Asp5340Glu | |
| NM_133437.4:c.16221T>G | NP_597681.4:p.Asp5407Glu | |
| XM_011511729.1:c.41937T>G | XP_011510031.1:p.Asp13979Glu | |
| XM_011511730.1:c.15831T>G | XP_011510032.1:p.Asp5277Glu | |
| XM_011511731.1:c.15690T>G | XP_011510033.1:p.Asp5230Glu | |
| XM_017004819.1:c.41733T>G | XP_016860308.1:p.Asp13911Glu | |
| XM_017004820.1:c.37131T>G | XP_016860309.1:p.Asp12377Glu | |
| XM_017004821.1:c.37128T>G | XP_016860310.1:p.Asp12376Glu | |
| XM_017004822.1:c.34170T>G | XP_016860311.1:p.Asp11390Glu | |
| XM_017004823.1:c.15786T>G | XP_016860312.1:p.Asp5262Glu | |
| XM_024453094.1:c.37281T>G | XP_024308862.1:p.Asp12427Glu | |
| XM_024453095.1:c.37278T>G | XP_024308863.1:p.Asp12426Glu | |
| XM_024453096.1:c.36711T>G | XP_024308864.1:p.Asp12237Glu | |
| XM_024453097.1:c.34053T>G | XP_024308865.1:p.Asp11351Glu | |
| XM_024453098.1:c.33972T>G | XP_024308866.1:p.Asp11324Glu | |
| XM_024453099.1:c.15735T>G | XP_024308867.1:p.Asp5245Glu | |
| XM_024453100.1:c.5589T>G | XP_024308868.1:p.Asp1863Glu |