Linked Data
ClinVar Variation Id:
262339
dbSNP Id:
rs750079478
ExAC:
2:179396801 A / G
gnomAD v2:
2-179396801-A-G
gnomAD v4:
2-178532074-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532074A>G , CM000664.2:g.178532074A>G | GRCh38 |
| NC_000002.11:g.179396801A>G , CM000664.1:g.179396801A>G | GRCh37 |
| NC_000002.10:g.179105047A>G | NCBI36 |
| NG_011618.3:g.303729T>C , LRG_391:g.303729T>C | |
| NG_051363.1:g.14248A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96837T>C (TTN) | ENSP00000343764.6:p.Tyr32279= | |
| ENST00000342175.11:c.77922T>C (TTN) | ENSP00000340554.6:p.Tyr25974= | |
| ENST00000359218.10:c.77721T>C (TTN) | ENSP00000352154.5:p.Tyr25907= | |
| ENST00000342175.10:c.77922T>C (TTN) | ENSP00000340554.6:p.Tyr25974= | |
| ENST00000342992.10:c.96837T>C (TTN) | ENSP00000343764.6:p.Tyr32279= | |
| ENST00000359218.9:c.77721T>C (TTN) | ENSP00000352154.5:p.Tyr25907= | |
| ENST00000460472.6:c.77346T>C (TTN) | ENSP00000434586.1:p.Tyr25782= | |
| ENST00000589042.5:c.104541T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr34847= | |
| ENST00000591111.5:c.99618T>C (TTN) | ENSP00000465570.1:p.Tyr33206= | |
| ENST00000615779.4:c.99618T>C (TTN) | ENSP00000483597.1:p.Tyr33206= | |
| NM_001256850.1:c.99618T>C (TTN) | NP_001243779.1:p.Tyr33206= | |
| NM_001267550.2:c.104541T>C (TTN) MANE Select | NP_001254479.2:p.Tyr34847= | |
| NM_003319.4:c.77346T>C (TTN) | NP_003310.4:p.Tyr25782= | |
| NM_133378.4:c.96837T>C (TTN) | NP_596869.4:p.Tyr32279= | |
| NM_133432.3:c.77721T>C (TTN) | NP_597676.3:p.Tyr25907= | |
| NM_133437.4:c.77922T>C (TTN) | NP_597681.4:p.Tyr25974= | |
| NR_038271.1:n.446+8438A>G (TTN-AS1) | ||
| NR_038272.1:n.220-3658A>G (TTN-AS1) | ||
| XM_011511729.1:c.103638T>C (TTN) | XP_011510031.1:p.Tyr34546= | |
| XM_011511730.1:c.77532T>C (TTN) | XP_011510032.1:p.Tyr25844= | |
| XM_011511731.1:c.77391T>C (TTN) | XP_011510033.1:p.Tyr25797= | |
| XM_017004819.1:c.103434T>C (TTN) | XP_016860308.1:p.Tyr34478= | |
| XM_017004820.1:c.98832T>C (TTN) | XP_016860309.1:p.Tyr32944= | |
| XM_017004821.1:c.98829T>C (TTN) | XP_016860310.1:p.Tyr32943= | |
| XM_017004822.1:c.95871T>C (TTN) | XP_016860311.1:p.Tyr31957= | |
| XM_017004823.1:c.77487T>C (TTN) | XP_016860312.1:p.Tyr25829= | |
| XM_024453094.1:c.98982T>C (TTN) | XP_024308862.1:p.Tyr32994= | |
| XM_024453095.1:c.98979T>C (TTN) | XP_024308863.1:p.Tyr32993= | |
| XM_024453096.1:c.98412T>C (TTN) | XP_024308864.1:p.Tyr32804= | |
| XM_024453097.1:c.95754T>C (TTN) | XP_024308865.1:p.Tyr31918= | |
| XM_024453098.1:c.95673T>C (TTN) | XP_024308866.1:p.Tyr31891= | |
| XM_024453099.1:c.77436T>C (TTN) | XP_024308867.1:p.Tyr25812= | |
| XM_024453100.1:c.67290T>C (TTN) | XP_024308868.1:p.Tyr22430= |