Linked Data
ClinVar Variation Id:
404795
dbSNP Id:
rs376616067
ExAC:
2:179428175 A / G
gnomAD v2:
2-179428175-A-G
gnomAD v3:
2-178563448-A-G
gnomAD v4:
2-178563448-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563448A>G , CM000664.2:g.178563448A>G | GRCh38 |
| NC_000002.11:g.179428175A>G , CM000664.1:g.179428175A>G | GRCh37 |
| NC_000002.10:g.179136421A>G | NCBI36 |
| NG_011618.3:g.272355T>C , LRG_391:g.272355T>C | |
| NG_051363.1:g.45622A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74980T>C (TTN) | ENSP00000343764.6:p.Tyr24994His | |
| ENST00000342175.11:c.56065T>C (TTN) | ENSP00000340554.6:p.Tyr18689His | |
| ENST00000359218.10:c.55864T>C (TTN) | ENSP00000352154.5:p.Tyr18622His | |
| ENST00000342175.10:c.56065T>C (TTN) | ENSP00000340554.6:p.Tyr18689His | |
| ENST00000342992.10:c.74980T>C (TTN) | ENSP00000343764.6:p.Tyr24994His | |
| ENST00000359218.9:c.55864T>C (TTN) | ENSP00000352154.5:p.Tyr18622His | |
| ENST00000460472.6:c.55489T>C (TTN) | ENSP00000434586.1:p.Tyr18497His | |
| ENST00000589042.5:c.82684T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr27562His | |
| ENST00000591111.5:c.77761T>C (TTN) | ENSP00000465570.1:p.Tyr25921His | |
| ENST00000615779.4:c.77761T>C (TTN) | ENSP00000483597.1:p.Tyr25921His | |
| NM_001256850.1:c.77761T>C (TTN) | NP_001243779.1:p.Tyr25921His | |
| NM_001267550.2:c.82684T>C (TTN) MANE Select | NP_001254479.2:p.Tyr27562His | |
| NM_003319.4:c.55489T>C (TTN) | NP_003310.4:p.Tyr18497His | |
| NM_133378.4:c.74980T>C (TTN) | NP_596869.4:p.Tyr24994His | |
| NM_133432.3:c.55864T>C (TTN) | NP_597676.3:p.Tyr18622His | |
| NM_133437.4:c.56065T>C (TTN) | NP_597681.4:p.Tyr18689His | |
| NR_038271.1:n.447-7852A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-19124A>G (TTN-AS1) | ||
| XM_011511729.1:c.81781T>C (TTN) | XP_011510031.1:p.Tyr27261His | |
| XM_011511730.1:c.55675T>C (TTN) | XP_011510032.1:p.Tyr18559His | |
| XM_011511731.1:c.55534T>C (TTN) | XP_011510033.1:p.Tyr18512His | |
| XM_017004819.1:c.81577T>C (TTN) | XP_016860308.1:p.Tyr27193His | |
| XM_017004820.1:c.76975T>C (TTN) | XP_016860309.1:p.Tyr25659His | |
| XM_017004821.1:c.76972T>C (TTN) | XP_016860310.1:p.Tyr25658His | |
| XM_017004822.1:c.74014T>C (TTN) | XP_016860311.1:p.Tyr24672His | |
| XM_017004823.1:c.55630T>C (TTN) | XP_016860312.1:p.Tyr18544His | |
| XM_024453094.1:c.77125T>C (TTN) | XP_024308862.1:p.Tyr25709His | |
| XM_024453095.1:c.77122T>C (TTN) | XP_024308863.1:p.Tyr25708His | |
| XM_024453096.1:c.76555T>C (TTN) | XP_024308864.1:p.Tyr25519His | |
| XM_024453097.1:c.73897T>C (TTN) | XP_024308865.1:p.Tyr24633His | |
| XM_024453098.1:c.73816T>C (TTN) | XP_024308866.1:p.Tyr24606His | |
| XM_024453099.1:c.55579T>C (TTN) | XP_024308867.1:p.Tyr18527His | |
| XM_024453100.1:c.45433T>C (TTN) | XP_024308868.1:p.Tyr15145His |