Linked Data
ClinVar Variation Id:
467478
dbSNP Id:
rs759110420
ExAC:
2:179435600 C / T
gnomAD v2:
2-179435600-C-T
gnomAD v3:
2-178570873-C-T
gnomAD v4:
2-178570873-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570873C>T , CM000664.2:g.178570873C>T | GRCh38 |
| NC_000002.11:g.179435600C>T , CM000664.1:g.179435600C>T | GRCh37 |
| NC_000002.10:g.179143846C>T | NCBI36 |
| NG_011618.3:g.264930G>A , LRG_391:g.264930G>A | |
| NG_051363.1:g.53047C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67555G>A (TTN) | ENSP00000343764.6:p.Ala22519Thr | |
| ENST00000342175.11:c.48640G>A (TTN) | ENSP00000340554.6:p.Ala16214Thr | |
| ENST00000359218.10:c.48439G>A (TTN) | ENSP00000352154.5:p.Ala16147Thr | |
| ENST00000342175.10:c.48640G>A (TTN) | ENSP00000340554.6:p.Ala16214Thr | |
| ENST00000342992.10:c.67555G>A (TTN) | ENSP00000343764.6:p.Ala22519Thr | |
| ENST00000359218.9:c.48439G>A (TTN) | ENSP00000352154.5:p.Ala16147Thr | |
| ENST00000460472.6:c.48064G>A (TTN) | ENSP00000434586.1:p.Ala16022Thr | |
| ENST00000589042.5:c.75259G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala25087Thr | |
| ENST00000591111.5:c.70336G>A (TTN) | ENSP00000465570.1:p.Ala23446Thr | |
| ENST00000615779.4:c.70336G>A (TTN) | ENSP00000483597.1:p.Ala23446Thr | |
| NM_001256850.1:c.70336G>A (TTN) | NP_001243779.1:p.Ala23446Thr | |
| NM_001267550.2:c.75259G>A (TTN) MANE Select | NP_001254479.2:p.Ala25087Thr | |
| NM_003319.4:c.48064G>A (TTN) | NP_003310.4:p.Ala16022Thr | |
| NM_133378.4:c.67555G>A (TTN) | NP_596869.4:p.Ala22519Thr | |
| NM_133432.3:c.48439G>A (TTN) | NP_597676.3:p.Ala16147Thr | |
| NM_133437.4:c.48640G>A (TTN) | NP_597681.4:p.Ala16214Thr | |
| NR_038271.1:n.447-427C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-11699C>T (TTN-AS1) | ||
| XM_011511729.1:c.74356G>A (TTN) | XP_011510031.1:p.Ala24786Thr | |
| XM_011511730.1:c.48250G>A (TTN) | XP_011510032.1:p.Ala16084Thr | |
| XM_011511731.1:c.48109G>A (TTN) | XP_011510033.1:p.Ala16037Thr | |
| XM_017004819.1:c.74152G>A (TTN) | XP_016860308.1:p.Ala24718Thr | |
| XM_017004820.1:c.69550G>A (TTN) | XP_016860309.1:p.Ala23184Thr | |
| XM_017004821.1:c.69547G>A (TTN) | XP_016860310.1:p.Ala23183Thr | |
| XM_017004822.1:c.66589G>A (TTN) | XP_016860311.1:p.Ala22197Thr | |
| XM_017004823.1:c.48205G>A (TTN) | XP_016860312.1:p.Ala16069Thr | |
| XM_024453094.1:c.69700G>A (TTN) | XP_024308862.1:p.Ala23234Thr | |
| XM_024453095.1:c.69697G>A (TTN) | XP_024308863.1:p.Ala23233Thr | |
| XM_024453096.1:c.69130G>A (TTN) | XP_024308864.1:p.Ala23044Thr | |
| XM_024453097.1:c.66472G>A (TTN) | XP_024308865.1:p.Ala22158Thr | |
| XM_024453098.1:c.66391G>A (TTN) | XP_024308866.1:p.Ala22131Thr | |
| XM_024453099.1:c.48154G>A (TTN) | XP_024308867.1:p.Ala16052Thr | |
| XM_024453100.1:c.38008G>A (TTN) | XP_024308868.1:p.Ala12670Thr |