Linked Data
ClinVar Variation Id:
290474
dbSNP Id:
rs886044461
gnomAD v2:
2-179432487-A-G
gnomAD v4:
2-178567760-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567760A>G , CM000664.2:g.178567760A>G | GRCh38 |
| NC_000002.11:g.179432487A>G , CM000664.1:g.179432487A>G | GRCh37 |
| NC_000002.10:g.179140733A>G | NCBI36 |
| NG_011618.3:g.268043T>C , LRG_391:g.268043T>C | |
| NG_051363.1:g.49934A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70668T>C (TTN) | ENSP00000343764.6:p.Ile23556= | |
| ENST00000342175.11:c.51753T>C (TTN) | ENSP00000340554.6:p.Ile17251= | |
| ENST00000359218.10:c.51552T>C (TTN) | ENSP00000352154.5:p.Ile17184= | |
| ENST00000342175.10:c.51753T>C (TTN) | ENSP00000340554.6:p.Ile17251= | |
| ENST00000342992.10:c.70668T>C (TTN) | ENSP00000343764.6:p.Ile23556= | |
| ENST00000359218.9:c.51552T>C (TTN) | ENSP00000352154.5:p.Ile17184= | |
| ENST00000460472.6:c.51177T>C (TTN) | ENSP00000434586.1:p.Ile17059= | |
| ENST00000589042.5:c.78372T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile26124= | |
| ENST00000591111.5:c.73449T>C (TTN) | ENSP00000465570.1:p.Ile24483= | |
| ENST00000615779.4:c.73449T>C (TTN) | ENSP00000483597.1:p.Ile24483= | |
| NM_001256850.1:c.73449T>C (TTN) | NP_001243779.1:p.Ile24483= | |
| NM_001267550.2:c.78372T>C (TTN) MANE Select | NP_001254479.2:p.Ile26124= | |
| NM_003319.4:c.51177T>C (TTN) | NP_003310.4:p.Ile17059= | |
| NM_133378.4:c.70668T>C (TTN) | NP_596869.4:p.Ile23556= | |
| NM_133432.3:c.51552T>C (TTN) | NP_597676.3:p.Ile17184= | |
| NM_133437.4:c.51753T>C (TTN) | NP_597681.4:p.Ile17251= | |
| NR_038271.1:n.447-3540A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-14812A>G (TTN-AS1) | ||
| XM_011511729.1:c.77469T>C (TTN) | XP_011510031.1:p.Ile25823= | |
| XM_011511730.1:c.51363T>C (TTN) | XP_011510032.1:p.Ile17121= | |
| XM_011511731.1:c.51222T>C (TTN) | XP_011510033.1:p.Ile17074= | |
| XM_017004819.1:c.77265T>C (TTN) | XP_016860308.1:p.Ile25755= | |
| XM_017004820.1:c.72663T>C (TTN) | XP_016860309.1:p.Ile24221= | |
| XM_017004821.1:c.72660T>C (TTN) | XP_016860310.1:p.Ile24220= | |
| XM_017004822.1:c.69702T>C (TTN) | XP_016860311.1:p.Ile23234= | |
| XM_017004823.1:c.51318T>C (TTN) | XP_016860312.1:p.Ile17106= | |
| XM_024453094.1:c.72813T>C (TTN) | XP_024308862.1:p.Ile24271= | |
| XM_024453095.1:c.72810T>C (TTN) | XP_024308863.1:p.Ile24270= | |
| XM_024453096.1:c.72243T>C (TTN) | XP_024308864.1:p.Ile24081= | |
| XM_024453097.1:c.69585T>C (TTN) | XP_024308865.1:p.Ile23195= | |
| XM_024453098.1:c.69504T>C (TTN) | XP_024308866.1:p.Ile23168= | |
| XM_024453099.1:c.51267T>C (TTN) | XP_024308867.1:p.Ile17089= | |
| XM_024453100.1:c.41121T>C (TTN) | XP_024308868.1:p.Ile13707= |