Linked Data
ClinVar Variation Id:
518900
dbSNP Id:
rs369260968
ExAC:
2:179465779 A / G
gnomAD v2:
2-179465779-A-G
gnomAD v3:
2-178601052-A-G
gnomAD v4:
2-178601052-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601052A>G , CM000664.2:g.178601052A>G | GRCh38 |
| NC_000002.11:g.179465779A>G , CM000664.1:g.179465779A>G | GRCh37 |
| NC_000002.10:g.179174024A>G | NCBI36 |
| NG_011618.3:g.234751T>C , LRG_391:g.234751T>C | |
| NG_051363.1:g.83226A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48148T>C (TTN) | ENSP00000343764.6:p.Cys16050Arg | |
| ENST00000342175.11:c.29233T>C (TTN) | ENSP00000340554.6:p.Cys9745Arg | |
| ENST00000359218.10:c.29032T>C (TTN) | ENSP00000352154.5:p.Cys9678Arg | |
| ENST00000342175.10:c.29233T>C (TTN) | ENSP00000340554.6:p.Cys9745Arg | |
| ENST00000342992.10:c.48148T>C (TTN) | ENSP00000343764.6:p.Cys16050Arg | |
| ENST00000359218.9:c.29032T>C (TTN) | ENSP00000352154.5:p.Cys9678Arg | |
| ENST00000460472.6:c.28657T>C (TTN) | ENSP00000434586.1:p.Cys9553Arg | |
| ENST00000589042.5:c.55852T>C (TTN) MANE Select | ENSP00000467141.1:p.Cys18618Arg | |
| ENST00000591111.5:c.50929T>C (TTN) | ENSP00000465570.1:p.Cys16977Arg | |
| ENST00000615779.4:c.50929T>C (TTN) | ENSP00000483597.1:p.Cys16977Arg | |
| NM_001256850.1:c.50929T>C (TTN) | NP_001243779.1:p.Cys16977Arg | |
| NM_001267550.2:c.55852T>C (TTN) MANE Select | NP_001254479.2:p.Cys18618Arg | |
| NM_003319.4:c.28657T>C (TTN) | NP_003310.4:p.Cys9553Arg | |
| NM_133378.4:c.48148T>C (TTN) | NP_596869.4:p.Cys16050Arg | |
| NM_133432.3:c.29032T>C (TTN) | NP_597676.3:p.Cys9678Arg | |
| NM_133437.4:c.29233T>C (TTN) | NP_597681.4:p.Cys9745Arg | |
| NR_038271.1:n.682+3371A>G (TTN-AS1) | ||
| NR_038272.1:n.3917+385A>G (TTN-AS1) | ||
| XM_011511729.1:c.54949T>C (TTN) | XP_011510031.1:p.Cys18317Arg | |
| XM_011511730.1:c.28843T>C (TTN) | XP_011510032.1:p.Cys9615Arg | |
| XM_011511731.1:c.28702T>C (TTN) | XP_011510033.1:p.Cys9568Arg | |
| XM_017004819.1:c.54745T>C (TTN) | XP_016860308.1:p.Cys18249Arg | |
| XM_017004820.1:c.50143T>C (TTN) | XP_016860309.1:p.Cys16715Arg | |
| XM_017004821.1:c.50140T>C (TTN) | XP_016860310.1:p.Cys16714Arg | |
| XM_017004822.1:c.47182T>C (TTN) | XP_016860311.1:p.Cys15728Arg | |
| XM_017004823.1:c.28798T>C (TTN) | XP_016860312.1:p.Cys9600Arg | |
| XM_024453094.1:c.50293T>C (TTN) | XP_024308862.1:p.Cys16765Arg | |
| XM_024453095.1:c.50290T>C (TTN) | XP_024308863.1:p.Cys16764Arg | |
| XM_024453096.1:c.49723T>C (TTN) | XP_024308864.1:p.Cys16575Arg | |
| XM_024453097.1:c.47065T>C (TTN) | XP_024308865.1:p.Cys15689Arg | |
| XM_024453098.1:c.46984T>C (TTN) | XP_024308866.1:p.Cys15662Arg | |
| XM_024453099.1:c.28747T>C (TTN) | XP_024308867.1:p.Cys9583Arg | |
| XM_024453100.1:c.18601T>C (TTN) | XP_024308868.1:p.Cys6201Arg |