Linked Data
ClinVar Variation Id:
47443
dbSNP Id:
rs397517731
ExAC:
2:179425819 A / G
gnomAD v2:
2-179425819-A-G
gnomAD v3:
2-178561092-A-G
gnomAD v4:
2-178561092-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561092A>G , CM000664.2:g.178561092A>G | GRCh38 |
| NC_000002.11:g.179425819A>G , CM000664.1:g.179425819A>G | GRCh37 |
| NC_000002.10:g.179134065A>G | NCBI36 |
| NG_011618.3:g.274711T>C , LRG_391:g.274711T>C | |
| NG_051363.1:g.43266A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77336T>C (TTN) | ENSP00000343764.6:p.Ile25779Thr | |
| ENST00000342175.11:c.58421T>C (TTN) | ENSP00000340554.6:p.Ile19474Thr | |
| ENST00000359218.10:c.58220T>C (TTN) | ENSP00000352154.5:p.Ile19407Thr | |
| ENST00000342175.10:c.58421T>C (TTN) | ENSP00000340554.6:p.Ile19474Thr | |
| ENST00000342992.10:c.77336T>C (TTN) | ENSP00000343764.6:p.Ile25779Thr | |
| ENST00000359218.9:c.58220T>C (TTN) | ENSP00000352154.5:p.Ile19407Thr | |
| ENST00000460472.6:c.57845T>C (TTN) | ENSP00000434586.1:p.Ile19282Thr | |
| ENST00000589042.5:c.85040T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile28347Thr | |
| ENST00000591111.5:c.80117T>C (TTN) | ENSP00000465570.1:p.Ile26706Thr | |
| ENST00000615779.4:c.80117T>C (TTN) | ENSP00000483597.1:p.Ile26706Thr | |
| NM_001256850.1:c.80117T>C (TTN) | NP_001243779.1:p.Ile26706Thr | |
| NM_001267550.2:c.85040T>C (TTN) MANE Select | NP_001254479.2:p.Ile28347Thr | |
| NM_003319.4:c.57845T>C (TTN) | NP_003310.4:p.Ile19282Thr | |
| NM_133378.4:c.77336T>C (TTN) | NP_596869.4:p.Ile25779Thr | |
| NM_133432.3:c.58220T>C (TTN) | NP_597676.3:p.Ile19407Thr | |
| NM_133437.4:c.58421T>C (TTN) | NP_597681.4:p.Ile19474Thr | |
| NR_038271.1:n.447-10208A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+18731A>G (TTN-AS1) | ||
| XM_011511729.1:c.84137T>C (TTN) | XP_011510031.1:p.Ile28046Thr | |
| XM_011511730.1:c.58031T>C (TTN) | XP_011510032.1:p.Ile19344Thr | |
| XM_011511731.1:c.57890T>C (TTN) | XP_011510033.1:p.Ile19297Thr | |
| XM_017004819.1:c.83933T>C (TTN) | XP_016860308.1:p.Ile27978Thr | |
| XM_017004820.1:c.79331T>C (TTN) | XP_016860309.1:p.Ile26444Thr | |
| XM_017004821.1:c.79328T>C (TTN) | XP_016860310.1:p.Ile26443Thr | |
| XM_017004822.1:c.76370T>C (TTN) | XP_016860311.1:p.Ile25457Thr | |
| XM_017004823.1:c.57986T>C (TTN) | XP_016860312.1:p.Ile19329Thr | |
| XM_024453094.1:c.79481T>C (TTN) | XP_024308862.1:p.Ile26494Thr | |
| XM_024453095.1:c.79478T>C (TTN) | XP_024308863.1:p.Ile26493Thr | |
| XM_024453096.1:c.78911T>C (TTN) | XP_024308864.1:p.Ile26304Thr | |
| XM_024453097.1:c.76253T>C (TTN) | XP_024308865.1:p.Ile25418Thr | |
| XM_024453098.1:c.76172T>C (TTN) | XP_024308866.1:p.Ile25391Thr | |
| XM_024453099.1:c.57935T>C (TTN) | XP_024308867.1:p.Ile19312Thr | |
| XM_024453100.1:c.47789T>C (TTN) | XP_024308868.1:p.Ile15930Thr |