Linked Data
ClinVar Variation Id:
332709
dbSNP Id:
rs762905152
ExAC:
2:179403317 C / T
gnomAD v2:
2-179403317-C-T
gnomAD v3:
2-178538590-C-T
gnomAD v4:
2-178538590-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178538590C>T , CM000664.2:g.178538590C>T | GRCh38 |
| NC_000002.11:g.179403317C>T , CM000664.1:g.179403317C>T | GRCh37 |
| NC_000002.10:g.179111563C>T | NCBI36 |
| NG_011618.3:g.297213G>A , LRG_391:g.297213G>A | |
| NG_051363.1:g.20764C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91535G>A (TTN) | ENSP00000343764.6:p.Gly30512Glu | |
| ENST00000342175.11:c.72620G>A (TTN) | ENSP00000340554.6:p.Gly24207Glu | |
| ENST00000359218.10:c.72419G>A (TTN) | ENSP00000352154.5:p.Gly24140Glu | |
| ENST00000342175.10:c.72620G>A (TTN) | ENSP00000340554.6:p.Gly24207Glu | |
| ENST00000342992.10:c.91535G>A (TTN) | ENSP00000343764.6:p.Gly30512Glu | |
| ENST00000359218.9:c.72419G>A (TTN) | ENSP00000352154.5:p.Gly24140Glu | |
| ENST00000460472.6:c.72044G>A (TTN) | ENSP00000434586.1:p.Gly24015Glu | |
| ENST00000589042.5:c.99239G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly33080Glu | |
| ENST00000591111.5:c.94316G>A (TTN) | ENSP00000465570.1:p.Gly31439Glu | |
| ENST00000615779.4:c.94316G>A (TTN) | ENSP00000483597.1:p.Gly31439Glu | |
| NM_001256850.1:c.94316G>A (TTN) | NP_001243779.1:p.Gly31439Glu | |
| NM_001267550.2:c.99239G>A (TTN) MANE Select | NP_001254479.2:p.Gly33080Glu | |
| NM_003319.4:c.72044G>A (TTN) | NP_003310.4:p.Gly24015Glu | |
| NM_133378.4:c.91535G>A (TTN) | NP_596869.4:p.Gly30512Glu | |
| NM_133432.3:c.72419G>A (TTN) | NP_597676.3:p.Gly24140Glu | |
| NM_133437.4:c.72620G>A (TTN) | NP_597681.4:p.Gly24207Glu | |
| NR_038271.1:n.446+14954C>T (TTN-AS1) | ||
| NR_038272.1:n.648-108C>T (TTN-AS1) | ||
| XM_011511729.1:c.98336G>A (TTN) | XP_011510031.1:p.Gly32779Glu | |
| XM_011511730.1:c.72230G>A (TTN) | XP_011510032.1:p.Gly24077Glu | |
| XM_011511731.1:c.72089G>A (TTN) | XP_011510033.1:p.Gly24030Glu | |
| XM_017004819.1:c.98132G>A (TTN) | XP_016860308.1:p.Gly32711Glu | |
| XM_017004820.1:c.93530G>A (TTN) | XP_016860309.1:p.Gly31177Glu | |
| XM_017004821.1:c.93527G>A (TTN) | XP_016860310.1:p.Gly31176Glu | |
| XM_017004822.1:c.90569G>A (TTN) | XP_016860311.1:p.Gly30190Glu | |
| XM_017004823.1:c.72185G>A (TTN) | XP_016860312.1:p.Gly24062Glu | |
| XM_024453094.1:c.93680G>A (TTN) | XP_024308862.1:p.Gly31227Glu | |
| XM_024453095.1:c.93677G>A (TTN) | XP_024308863.1:p.Gly31226Glu | |
| XM_024453096.1:c.93110G>A (TTN) | XP_024308864.1:p.Gly31037Glu | |
| XM_024453097.1:c.90452G>A (TTN) | XP_024308865.1:p.Gly30151Glu | |
| XM_024453098.1:c.90371G>A (TTN) | XP_024308866.1:p.Gly30124Glu | |
| XM_024453099.1:c.72134G>A (TTN) | XP_024308867.1:p.Gly24045Glu | |
| XM_024453100.1:c.61988G>A (TTN) | XP_024308868.1:p.Gly20663Glu |