Linked Data
ClinVar Variation Id:
47105
ClinVar RCV Id:
RCV000040375
RCV000228188
RCV000620720
RCV001134251
RCV001131279
RCV001134253
RCV001085000
RCV001134252
RCV001134254
dbSNP Id:
rs146608896
ExAC:
2:179466177 A / G
gnomAD v2:
2-179466177-A-G
gnomAD v3:
2-178601450-A-G
gnomAD v4:
2-178601450-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601450A>G , CM000664.2:g.178601450A>G | GRCh38 |
| NC_000002.11:g.179466177A>G , CM000664.1:g.179466177A>G | GRCh37 |
| NC_000002.10:g.179174422A>G | NCBI36 |
| NG_011618.3:g.234353T>C , LRG_391:g.234353T>C | |
| NG_051363.1:g.83624A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47843T>C (TTN) | ENSP00000343764.6:p.Ile15948Thr | |
| ENST00000342175.11:c.28928T>C (TTN) | ENSP00000340554.6:p.Ile9643Thr | |
| ENST00000359218.10:c.28727T>C (TTN) | ENSP00000352154.5:p.Ile9576Thr | |
| ENST00000342175.10:c.28928T>C (TTN) | ENSP00000340554.6:p.Ile9643Thr | |
| ENST00000342992.10:c.47843T>C (TTN) | ENSP00000343764.6:p.Ile15948Thr | |
| ENST00000359218.9:c.28727T>C (TTN) | ENSP00000352154.5:p.Ile9576Thr | |
| ENST00000460472.6:c.28352T>C (TTN) | ENSP00000434586.1:p.Ile9451Thr | |
| ENST00000589042.5:c.55547T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile18516Thr | |
| ENST00000591111.5:c.50624T>C (TTN) | ENSP00000465570.1:p.Ile16875Thr | |
| ENST00000615779.4:c.50624T>C (TTN) | ENSP00000483597.1:p.Ile16875Thr | |
| NM_001256850.1:c.50624T>C (TTN) | NP_001243779.1:p.Ile16875Thr | |
| NM_001267550.2:c.55547T>C (TTN) MANE Select | NP_001254479.2:p.Ile18516Thr | |
| NM_003319.4:c.28352T>C (TTN) | NP_003310.4:p.Ile9451Thr | |
| NM_133378.4:c.47843T>C (TTN) | NP_596869.4:p.Ile15948Thr | |
| NM_133432.3:c.28727T>C (TTN) | NP_597676.3:p.Ile9576Thr | |
| NM_133437.4:c.28928T>C (TTN) | NP_597681.4:p.Ile9643Thr | |
| NR_038271.1:n.682+3769A>G (TTN-AS1) | ||
| NR_038272.1:n.3917+783A>G (TTN-AS1) | ||
| XM_011511729.1:c.54644T>C (TTN) | XP_011510031.1:p.Ile18215Thr | |
| XM_011511730.1:c.28538T>C (TTN) | XP_011510032.1:p.Ile9513Thr | |
| XM_011511731.1:c.28397T>C (TTN) | XP_011510033.1:p.Ile9466Thr | |
| XM_017004819.1:c.54440T>C (TTN) | XP_016860308.1:p.Ile18147Thr | |
| XM_017004820.1:c.49838T>C (TTN) | XP_016860309.1:p.Ile16613Thr | |
| XM_017004821.1:c.49835T>C (TTN) | XP_016860310.1:p.Ile16612Thr | |
| XM_017004822.1:c.46877T>C (TTN) | XP_016860311.1:p.Ile15626Thr | |
| XM_017004823.1:c.28493T>C (TTN) | XP_016860312.1:p.Ile9498Thr | |
| XM_024453094.1:c.49988T>C (TTN) | XP_024308862.1:p.Ile16663Thr | |
| XM_024453095.1:c.49985T>C (TTN) | XP_024308863.1:p.Ile16662Thr | |
| XM_024453096.1:c.49418T>C (TTN) | XP_024308864.1:p.Ile16473Thr | |
| XM_024453097.1:c.46760T>C (TTN) | XP_024308865.1:p.Ile15587Thr | |
| XM_024453098.1:c.46679T>C (TTN) | XP_024308866.1:p.Ile15560Thr | |
| XM_024453099.1:c.28442T>C (TTN) | XP_024308867.1:p.Ile9481Thr | |
| XM_024453100.1:c.18296T>C (TTN) | XP_024308868.1:p.Ile6099Thr |