Linked Data
ClinVar Variation Id:
282434
dbSNP Id:
rs756663688
ExAC:
2:179417390 G / A
gnomAD v2:
2-179417390-G-A
gnomAD v3:
2-178552663-G-A
gnomAD v4:
2-178552663-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552663G>A , CM000664.2:g.178552663G>A | GRCh38 |
| NC_000002.11:g.179417390G>A , CM000664.1:g.179417390G>A | GRCh37 |
| NC_000002.10:g.179125636G>A | NCBI36 |
| NG_011618.3:g.283140C>T , LRG_391:g.283140C>T | |
| NG_051363.1:g.34837G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82533C>T (TTN) | ENSP00000343764.6:p.His27511= | |
| ENST00000342175.11:c.63618C>T (TTN) | ENSP00000340554.6:p.His21206= | |
| ENST00000359218.10:c.63417C>T (TTN) | ENSP00000352154.5:p.His21139= | |
| ENST00000342175.10:c.63618C>T (TTN) | ENSP00000340554.6:p.His21206= | |
| ENST00000342992.10:c.82533C>T (TTN) | ENSP00000343764.6:p.His27511= | |
| ENST00000359218.9:c.63417C>T (TTN) | ENSP00000352154.5:p.His21139= | |
| ENST00000460472.6:c.63042C>T (TTN) | ENSP00000434586.1:p.His21014= | |
| ENST00000589042.5:c.90237C>T (TTN) MANE Select | ENSP00000467141.1:p.His30079= | |
| ENST00000591111.5:c.85314C>T (TTN) | ENSP00000465570.1:p.His28438= | |
| ENST00000615779.4:c.85314C>T (TTN) | ENSP00000483597.1:p.His28438= | |
| NM_001256850.1:c.85314C>T (TTN) | NP_001243779.1:p.His28438= | |
| NM_001267550.2:c.90237C>T (TTN) MANE Select | NP_001254479.2:p.His30079= | |
| NM_003319.4:c.63042C>T (TTN) | NP_003310.4:p.His21014= | |
| NM_133378.4:c.82533C>T (TTN) | NP_596869.4:p.His27511= | |
| NM_133432.3:c.63417C>T (TTN) | NP_597676.3:p.His21139= | |
| NM_133437.4:c.63618C>T (TTN) | NP_597681.4:p.His21206= | |
| NR_038271.1:n.447-18637G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+10302G>A (TTN-AS1) | ||
| XM_011511729.1:c.89334C>T (TTN) | XP_011510031.1:p.His29778= | |
| XM_011511730.1:c.63228C>T (TTN) | XP_011510032.1:p.His21076= | |
| XM_011511731.1:c.63087C>T (TTN) | XP_011510033.1:p.His21029= | |
| XM_017004819.1:c.89130C>T (TTN) | XP_016860308.1:p.His29710= | |
| XM_017004820.1:c.84528C>T (TTN) | XP_016860309.1:p.His28176= | |
| XM_017004821.1:c.84525C>T (TTN) | XP_016860310.1:p.His28175= | |
| XM_017004822.1:c.81567C>T (TTN) | XP_016860311.1:p.His27189= | |
| XM_017004823.1:c.63183C>T (TTN) | XP_016860312.1:p.His21061= | |
| XM_024453094.1:c.84678C>T (TTN) | XP_024308862.1:p.His28226= | |
| XM_024453095.1:c.84675C>T (TTN) | XP_024308863.1:p.His28225= | |
| XM_024453096.1:c.84108C>T (TTN) | XP_024308864.1:p.His28036= | |
| XM_024453097.1:c.81450C>T (TTN) | XP_024308865.1:p.His27150= | |
| XM_024453098.1:c.81369C>T (TTN) | XP_024308866.1:p.His27123= | |
| XM_024453099.1:c.63132C>T (TTN) | XP_024308867.1:p.His21044= | |
| XM_024453100.1:c.52986C>T (TTN) | XP_024308868.1:p.His17662= |