Linked Data
ClinVar Variation Id:
47386
dbSNP Id:
rs369941201
ExAC:
2:179430434 C / T
gnomAD v2:
2-179430434-C-T
gnomAD v3:
2-178565707-C-T
gnomAD v4:
2-178565707-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565707C>T , CM000664.2:g.178565707C>T | GRCh38 |
| NC_000002.11:g.179430434C>T , CM000664.1:g.179430434C>T | GRCh37 |
| NC_000002.10:g.179138680C>T | NCBI36 |
| NG_011618.3:g.270096G>A , LRG_391:g.270096G>A | |
| NG_051363.1:g.47881C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72721G>A (TTN) | ENSP00000343764.6:p.Gly24241Ser | |
| ENST00000342175.11:c.53806G>A (TTN) | ENSP00000340554.6:p.Gly17936Ser | |
| ENST00000359218.10:c.53605G>A (TTN) | ENSP00000352154.5:p.Gly17869Ser | |
| ENST00000342175.10:c.53806G>A (TTN) | ENSP00000340554.6:p.Gly17936Ser | |
| ENST00000342992.10:c.72721G>A (TTN) | ENSP00000343764.6:p.Gly24241Ser | |
| ENST00000359218.9:c.53605G>A (TTN) | ENSP00000352154.5:p.Gly17869Ser | |
| ENST00000460472.6:c.53230G>A (TTN) | ENSP00000434586.1:p.Gly17744Ser | |
| ENST00000589042.5:c.80425G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly26809Ser | |
| ENST00000591111.5:c.75502G>A (TTN) | ENSP00000465570.1:p.Gly25168Ser | |
| ENST00000615779.4:c.75502G>A (TTN) | ENSP00000483597.1:p.Gly25168Ser | |
| NM_001256850.1:c.75502G>A (TTN) | NP_001243779.1:p.Gly25168Ser | |
| NM_001267550.2:c.80425G>A (TTN) MANE Select | NP_001254479.2:p.Gly26809Ser | |
| NM_003319.4:c.53230G>A (TTN) | NP_003310.4:p.Gly17744Ser | |
| NM_133378.4:c.72721G>A (TTN) | NP_596869.4:p.Gly24241Ser | |
| NM_133432.3:c.53605G>A (TTN) | NP_597676.3:p.Gly17869Ser | |
| NM_133437.4:c.53806G>A (TTN) | NP_597681.4:p.Gly17936Ser | |
| NR_038271.1:n.447-5593C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-16865C>T (TTN-AS1) | ||
| XM_011511729.1:c.79522G>A (TTN) | XP_011510031.1:p.Gly26508Ser | |
| XM_011511730.1:c.53416G>A (TTN) | XP_011510032.1:p.Gly17806Ser | |
| XM_011511731.1:c.53275G>A (TTN) | XP_011510033.1:p.Gly17759Ser | |
| XM_017004819.1:c.79318G>A (TTN) | XP_016860308.1:p.Gly26440Ser | |
| XM_017004820.1:c.74716G>A (TTN) | XP_016860309.1:p.Gly24906Ser | |
| XM_017004821.1:c.74713G>A (TTN) | XP_016860310.1:p.Gly24905Ser | |
| XM_017004822.1:c.71755G>A (TTN) | XP_016860311.1:p.Gly23919Ser | |
| XM_017004823.1:c.53371G>A (TTN) | XP_016860312.1:p.Gly17791Ser | |
| XM_024453094.1:c.74866G>A (TTN) | XP_024308862.1:p.Gly24956Ser | |
| XM_024453095.1:c.74863G>A (TTN) | XP_024308863.1:p.Gly24955Ser | |
| XM_024453096.1:c.74296G>A (TTN) | XP_024308864.1:p.Gly24766Ser | |
| XM_024453097.1:c.71638G>A (TTN) | XP_024308865.1:p.Gly23880Ser | |
| XM_024453098.1:c.71557G>A (TTN) | XP_024308866.1:p.Gly23853Ser | |
| XM_024453099.1:c.53320G>A (TTN) | XP_024308867.1:p.Gly17774Ser | |
| XM_024453100.1:c.43174G>A (TTN) | XP_024308868.1:p.Gly14392Ser |