Linked Data
ClinVar Variation Id:
191942
dbSNP Id:
rs372541479
ExAC:
2:179466463 A / G
gnomAD v2:
2-179466463-A-G
gnomAD v3:
2-178601736-A-G
gnomAD v4:
2-178601736-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601736A>G , CM000664.2:g.178601736A>G | GRCh38 |
| NC_000002.11:g.179466463A>G , CM000664.1:g.179466463A>G | GRCh37 |
| NC_000002.10:g.179174708A>G | NCBI36 |
| NG_011618.3:g.234067T>C , LRG_391:g.234067T>C | |
| NG_051363.1:g.83910A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47650T>C (TTN) | ENSP00000343764.6:p.Ser15884Pro | |
| ENST00000342175.11:c.28735T>C (TTN) | ENSP00000340554.6:p.Ser9579Pro | |
| ENST00000359218.10:c.28534T>C (TTN) | ENSP00000352154.5:p.Ser9512Pro | |
| ENST00000342175.10:c.28735T>C (TTN) | ENSP00000340554.6:p.Ser9579Pro | |
| ENST00000342992.10:c.47650T>C (TTN) | ENSP00000343764.6:p.Ser15884Pro | |
| ENST00000359218.9:c.28534T>C (TTN) | ENSP00000352154.5:p.Ser9512Pro | |
| ENST00000460472.6:c.28159T>C (TTN) | ENSP00000434586.1:p.Ser9387Pro | |
| ENST00000589042.5:c.55354T>C (TTN) MANE Select | ENSP00000467141.1:p.Ser18452Pro | |
| ENST00000591111.5:c.50431T>C (TTN) | ENSP00000465570.1:p.Ser16811Pro | |
| ENST00000615779.4:c.50431T>C (TTN) | ENSP00000483597.1:p.Ser16811Pro | |
| NM_001256850.1:c.50431T>C (TTN) | NP_001243779.1:p.Ser16811Pro | |
| NM_001267550.2:c.55354T>C (TTN) MANE Select | NP_001254479.2:p.Ser18452Pro | |
| NM_003319.4:c.28159T>C (TTN) | NP_003310.4:p.Ser9387Pro | |
| NM_133378.4:c.47650T>C (TTN) | NP_596869.4:p.Ser15884Pro | |
| NM_133432.3:c.28534T>C (TTN) | NP_597676.3:p.Ser9512Pro | |
| NM_133437.4:c.28735T>C (TTN) | NP_597681.4:p.Ser9579Pro | |
| NR_038271.1:n.682+4055A>G (TTN-AS1) | ||
| NR_038272.1:n.3917+1069A>G (TTN-AS1) | ||
| XM_011511729.1:c.54451T>C (TTN) | XP_011510031.1:p.Ser18151Pro | |
| XM_011511730.1:c.28345T>C (TTN) | XP_011510032.1:p.Ser9449Pro | |
| XM_011511731.1:c.28204T>C (TTN) | XP_011510033.1:p.Ser9402Pro | |
| XM_017004819.1:c.54247T>C (TTN) | XP_016860308.1:p.Ser18083Pro | |
| XM_017004820.1:c.49645T>C (TTN) | XP_016860309.1:p.Ser16549Pro | |
| XM_017004821.1:c.49642T>C (TTN) | XP_016860310.1:p.Ser16548Pro | |
| XM_017004822.1:c.46684T>C (TTN) | XP_016860311.1:p.Ser15562Pro | |
| XM_017004823.1:c.28300T>C (TTN) | XP_016860312.1:p.Ser9434Pro | |
| XM_024453094.1:c.49795T>C (TTN) | XP_024308862.1:p.Ser16599Pro | |
| XM_024453095.1:c.49792T>C (TTN) | XP_024308863.1:p.Ser16598Pro | |
| XM_024453096.1:c.49225T>C (TTN) | XP_024308864.1:p.Ser16409Pro | |
| XM_024453097.1:c.46567T>C (TTN) | XP_024308865.1:p.Ser15523Pro | |
| XM_024453098.1:c.46486T>C (TTN) | XP_024308866.1:p.Ser15496Pro | |
| XM_024453099.1:c.28249T>C (TTN) | XP_024308867.1:p.Ser9417Pro | |
| XM_024453100.1:c.18103T>C (TTN) | XP_024308868.1:p.Ser6035Pro |