Linked Data
ClinVar Variation Id:
332738
dbSNP Id:
rs201658018
gnomAD v2:
2-179418846-A-G
gnomAD v3:
2-178554119-A-G
gnomAD v4:
2-178554119-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554119A>G , CM000664.2:g.178554119A>G | GRCh38 |
| NC_000002.11:g.179418846A>G , CM000664.1:g.179418846A>G | GRCh37 |
| NC_000002.10:g.179127092A>G | NCBI36 |
| NG_011618.3:g.281684T>C , LRG_391:g.281684T>C | |
| NG_051363.1:g.36293A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81288T>C (TTN) | ENSP00000343764.6:p.Asp27096= | |
| ENST00000342175.11:c.62373T>C (TTN) | ENSP00000340554.6:p.Asp20791= | |
| ENST00000359218.10:c.62172T>C (TTN) | ENSP00000352154.5:p.Asp20724= | |
| ENST00000342175.10:c.62373T>C (TTN) | ENSP00000340554.6:p.Asp20791= | |
| ENST00000342992.10:c.81288T>C (TTN) | ENSP00000343764.6:p.Asp27096= | |
| ENST00000359218.9:c.62172T>C (TTN) | ENSP00000352154.5:p.Asp20724= | |
| ENST00000460472.6:c.61797T>C (TTN) | ENSP00000434586.1:p.Asp20599= | |
| ENST00000589042.5:c.88992T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp29664= | |
| ENST00000591111.5:c.84069T>C (TTN) | ENSP00000465570.1:p.Asp28023= | |
| ENST00000615779.4:c.84069T>C (TTN) | ENSP00000483597.1:p.Asp28023= | |
| NM_001256850.1:c.84069T>C (TTN) | NP_001243779.1:p.Asp28023= | |
| NM_001267550.2:c.88992T>C (TTN) MANE Select | NP_001254479.2:p.Asp29664= | |
| NM_003319.4:c.61797T>C (TTN) | NP_003310.4:p.Asp20599= | |
| NM_133378.4:c.81288T>C (TTN) | NP_596869.4:p.Asp27096= | |
| NM_133432.3:c.62172T>C (TTN) | NP_597676.3:p.Asp20724= | |
| NM_133437.4:c.62373T>C (TTN) | NP_597681.4:p.Asp20791= | |
| NR_038271.1:n.447-17181A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+11758A>G (TTN-AS1) | ||
| XM_011511729.1:c.88089T>C (TTN) | XP_011510031.1:p.Asp29363= | |
| XM_011511730.1:c.61983T>C (TTN) | XP_011510032.1:p.Asp20661= | |
| XM_011511731.1:c.61842T>C (TTN) | XP_011510033.1:p.Asp20614= | |
| XM_017004819.1:c.87885T>C (TTN) | XP_016860308.1:p.Asp29295= | |
| XM_017004820.1:c.83283T>C (TTN) | XP_016860309.1:p.Asp27761= | |
| XM_017004821.1:c.83280T>C (TTN) | XP_016860310.1:p.Asp27760= | |
| XM_017004822.1:c.80322T>C (TTN) | XP_016860311.1:p.Asp26774= | |
| XM_017004823.1:c.61938T>C (TTN) | XP_016860312.1:p.Asp20646= | |
| XM_024453094.1:c.83433T>C (TTN) | XP_024308862.1:p.Asp27811= | |
| XM_024453095.1:c.83430T>C (TTN) | XP_024308863.1:p.Asp27810= | |
| XM_024453096.1:c.82863T>C (TTN) | XP_024308864.1:p.Asp27621= | |
| XM_024453097.1:c.80205T>C (TTN) | XP_024308865.1:p.Asp26735= | |
| XM_024453098.1:c.80124T>C (TTN) | XP_024308866.1:p.Asp26708= | |
| XM_024453099.1:c.61887T>C (TTN) | XP_024308867.1:p.Asp20629= | |
| XM_024453100.1:c.51741T>C (TTN) | XP_024308868.1:p.Asp17247= |