Linked Data
ClinVar Variation Id:
47524
dbSNP Id:
rs397517755
ExAC:
2:179413902 C / A
gnomAD v2:
2-179413902-C-A
gnomAD v3:
2-178549175-C-A
gnomAD v4:
2-178549175-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549175C>A , CM000664.2:g.178549175C>A | GRCh38 |
| NC_000002.11:g.179413902C>A , CM000664.1:g.179413902C>A | GRCh37 |
| NC_000002.10:g.179122148C>A | NCBI36 |
| NG_011618.3:g.286628G>T , LRG_391:g.286628G>T | |
| NG_051363.1:g.31349C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84747G>T (TTN) | ENSP00000343764.6:p.Glu28249Asp | |
| ENST00000342175.11:c.65832G>T (TTN) | ENSP00000340554.6:p.Glu21944Asp | |
| ENST00000359218.10:c.65631G>T (TTN) | ENSP00000352154.5:p.Glu21877Asp | |
| ENST00000342175.10:c.65832G>T (TTN) | ENSP00000340554.6:p.Glu21944Asp | |
| ENST00000342992.10:c.84747G>T (TTN) | ENSP00000343764.6:p.Glu28249Asp | |
| ENST00000359218.9:c.65631G>T (TTN) | ENSP00000352154.5:p.Glu21877Asp | |
| ENST00000460472.6:c.65256G>T (TTN) | ENSP00000434586.1:p.Glu21752Asp | |
| ENST00000589042.5:c.92451G>T (TTN) MANE Select | ENSP00000467141.1:p.Glu30817Asp | |
| ENST00000591111.5:c.87528G>T (TTN) | ENSP00000465570.1:p.Glu29176Asp | |
| ENST00000615779.4:c.87528G>T (TTN) | ENSP00000483597.1:p.Glu29176Asp | |
| NM_001256850.1:c.87528G>T (TTN) | NP_001243779.1:p.Glu29176Asp | |
| NM_001267550.2:c.92451G>T (TTN) MANE Select | NP_001254479.2:p.Glu30817Asp | |
| NM_003319.4:c.65256G>T (TTN) | NP_003310.4:p.Glu21752Asp | |
| NM_133378.4:c.84747G>T (TTN) | NP_596869.4:p.Glu28249Asp | |
| NM_133432.3:c.65631G>T (TTN) | NP_597676.3:p.Glu21877Asp | |
| NM_133437.4:c.65832G>T (TTN) | NP_597681.4:p.Glu21944Asp | |
| NR_038271.1:n.447-22125C>A (TTN-AS1) | ||
| NR_038272.1:n.2043+6814C>A (TTN-AS1) | ||
| XM_011511729.1:c.91548G>T (TTN) | XP_011510031.1:p.Glu30516Asp | |
| XM_011511730.1:c.65442G>T (TTN) | XP_011510032.1:p.Glu21814Asp | |
| XM_011511731.1:c.65301G>T (TTN) | XP_011510033.1:p.Glu21767Asp | |
| XM_017004819.1:c.91344G>T (TTN) | XP_016860308.1:p.Glu30448Asp | |
| XM_017004820.1:c.86742G>T (TTN) | XP_016860309.1:p.Glu28914Asp | |
| XM_017004821.1:c.86739G>T (TTN) | XP_016860310.1:p.Glu28913Asp | |
| XM_017004822.1:c.83781G>T (TTN) | XP_016860311.1:p.Glu27927Asp | |
| XM_017004823.1:c.65397G>T (TTN) | XP_016860312.1:p.Glu21799Asp | |
| XM_024453094.1:c.86892G>T (TTN) | XP_024308862.1:p.Glu28964Asp | |
| XM_024453095.1:c.86889G>T (TTN) | XP_024308863.1:p.Glu28963Asp | |
| XM_024453096.1:c.86322G>T (TTN) | XP_024308864.1:p.Glu28774Asp | |
| XM_024453097.1:c.83664G>T (TTN) | XP_024308865.1:p.Glu27888Asp | |
| XM_024453098.1:c.83583G>T (TTN) | XP_024308866.1:p.Glu27861Asp | |
| XM_024453099.1:c.65346G>T (TTN) | XP_024308867.1:p.Glu21782Asp | |
| XM_024453100.1:c.55200G>T (TTN) | XP_024308868.1:p.Glu18400Asp |