Linked Data
ClinVar Variation Id:
178175
dbSNP Id:
rs200193877
ExAC:
2:179418866 T / C
gnomAD v2:
2-179418866-T-C
gnomAD v3:
2-178554139-T-C
gnomAD v4:
2-178554139-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554139T>C , CM000664.2:g.178554139T>C | GRCh38 |
| NC_000002.11:g.179418866T>C , CM000664.1:g.179418866T>C | GRCh37 |
| NC_000002.10:g.179127112T>C | NCBI36 |
| NG_011618.3:g.281664A>G , LRG_391:g.281664A>G | |
| NG_051363.1:g.36313T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81268A>G (TTN) | ENSP00000343764.6:p.Ile27090Val | |
| ENST00000342175.11:c.62353A>G (TTN) | ENSP00000340554.6:p.Ile20785Val | |
| ENST00000359218.10:c.62152A>G (TTN) | ENSP00000352154.5:p.Ile20718Val | |
| ENST00000342175.10:c.62353A>G (TTN) | ENSP00000340554.6:p.Ile20785Val | |
| ENST00000342992.10:c.81268A>G (TTN) | ENSP00000343764.6:p.Ile27090Val | |
| ENST00000359218.9:c.62152A>G (TTN) | ENSP00000352154.5:p.Ile20718Val | |
| ENST00000460472.6:c.61777A>G (TTN) | ENSP00000434586.1:p.Ile20593Val | |
| ENST00000589042.5:c.88972A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile29658Val | |
| ENST00000591111.5:c.84049A>G (TTN) | ENSP00000465570.1:p.Ile28017Val | |
| ENST00000615779.4:c.84049A>G (TTN) | ENSP00000483597.1:p.Ile28017Val | |
| NM_001256850.1:c.84049A>G (TTN) | NP_001243779.1:p.Ile28017Val | |
| NM_001267550.2:c.88972A>G (TTN) MANE Select | NP_001254479.2:p.Ile29658Val | |
| NM_003319.4:c.61777A>G (TTN) | NP_003310.4:p.Ile20593Val | |
| NM_133378.4:c.81268A>G (TTN) | NP_596869.4:p.Ile27090Val | |
| NM_133432.3:c.62152A>G (TTN) | NP_597676.3:p.Ile20718Val | |
| NM_133437.4:c.62353A>G (TTN) | NP_597681.4:p.Ile20785Val | |
| NR_038271.1:n.447-17161T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+11778T>C (TTN-AS1) | ||
| XM_011511729.1:c.88069A>G (TTN) | XP_011510031.1:p.Ile29357Val | |
| XM_011511730.1:c.61963A>G (TTN) | XP_011510032.1:p.Ile20655Val | |
| XM_011511731.1:c.61822A>G (TTN) | XP_011510033.1:p.Ile20608Val | |
| XM_017004819.1:c.87865A>G (TTN) | XP_016860308.1:p.Ile29289Val | |
| XM_017004820.1:c.83263A>G (TTN) | XP_016860309.1:p.Ile27755Val | |
| XM_017004821.1:c.83260A>G (TTN) | XP_016860310.1:p.Ile27754Val | |
| XM_017004822.1:c.80302A>G (TTN) | XP_016860311.1:p.Ile26768Val | |
| XM_017004823.1:c.61918A>G (TTN) | XP_016860312.1:p.Ile20640Val | |
| XM_024453094.1:c.83413A>G (TTN) | XP_024308862.1:p.Ile27805Val | |
| XM_024453095.1:c.83410A>G (TTN) | XP_024308863.1:p.Ile27804Val | |
| XM_024453096.1:c.82843A>G (TTN) | XP_024308864.1:p.Ile27615Val | |
| XM_024453097.1:c.80185A>G (TTN) | XP_024308865.1:p.Ile26729Val | |
| XM_024453098.1:c.80104A>G (TTN) | XP_024308866.1:p.Ile26702Val | |
| XM_024453099.1:c.61867A>G (TTN) | XP_024308867.1:p.Ile20623Val | |
| XM_024453100.1:c.51721A>G (TTN) | XP_024308868.1:p.Ile17241Val |