Linked Data
ClinVar Variation Id:
378828
dbSNP Id:
rs373311745
ExAC:
2:179414112 A / G
gnomAD v2:
2-179414112-A-G
gnomAD v3:
2-178549385-A-G
gnomAD v4:
2-178549385-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549385A>G , CM000664.2:g.178549385A>G | GRCh38 |
| NC_000002.11:g.179414112A>G , CM000664.1:g.179414112A>G | GRCh37 |
| NC_000002.10:g.179122358A>G | NCBI36 |
| NG_011618.3:g.286418T>C , LRG_391:g.286418T>C | |
| NG_051363.1:g.31559A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84537T>C (TTN) | ENSP00000343764.6:p.Gly28179= | |
| ENST00000342175.11:c.65622T>C (TTN) | ENSP00000340554.6:p.Gly21874= | |
| ENST00000359218.10:c.65421T>C (TTN) | ENSP00000352154.5:p.Gly21807= | |
| ENST00000342175.10:c.65622T>C (TTN) | ENSP00000340554.6:p.Gly21874= | |
| ENST00000342992.10:c.84537T>C (TTN) | ENSP00000343764.6:p.Gly28179= | |
| ENST00000359218.9:c.65421T>C (TTN) | ENSP00000352154.5:p.Gly21807= | |
| ENST00000460472.6:c.65046T>C (TTN) | ENSP00000434586.1:p.Gly21682= | |
| ENST00000589042.5:c.92241T>C (TTN) MANE Select | ENSP00000467141.1:p.Gly30747= | |
| ENST00000591111.5:c.87318T>C (TTN) | ENSP00000465570.1:p.Gly29106= | |
| ENST00000615779.4:c.87318T>C (TTN) | ENSP00000483597.1:p.Gly29106= | |
| NM_001256850.1:c.87318T>C (TTN) | NP_001243779.1:p.Gly29106= | |
| NM_001267550.2:c.92241T>C (TTN) MANE Select | NP_001254479.2:p.Gly30747= | |
| NM_003319.4:c.65046T>C (TTN) | NP_003310.4:p.Gly21682= | |
| NM_133378.4:c.84537T>C (TTN) | NP_596869.4:p.Gly28179= | |
| NM_133432.3:c.65421T>C (TTN) | NP_597676.3:p.Gly21807= | |
| NM_133437.4:c.65622T>C (TTN) | NP_597681.4:p.Gly21874= | |
| NR_038271.1:n.447-21915A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+7024A>G (TTN-AS1) | ||
| XM_011511729.1:c.91338T>C (TTN) | XP_011510031.1:p.Gly30446= | |
| XM_011511730.1:c.65232T>C (TTN) | XP_011510032.1:p.Gly21744= | |
| XM_011511731.1:c.65091T>C (TTN) | XP_011510033.1:p.Gly21697= | |
| XM_017004819.1:c.91134T>C (TTN) | XP_016860308.1:p.Gly30378= | |
| XM_017004820.1:c.86532T>C (TTN) | XP_016860309.1:p.Gly28844= | |
| XM_017004821.1:c.86529T>C (TTN) | XP_016860310.1:p.Gly28843= | |
| XM_017004822.1:c.83571T>C (TTN) | XP_016860311.1:p.Gly27857= | |
| XM_017004823.1:c.65187T>C (TTN) | XP_016860312.1:p.Gly21729= | |
| XM_024453094.1:c.86682T>C (TTN) | XP_024308862.1:p.Gly28894= | |
| XM_024453095.1:c.86679T>C (TTN) | XP_024308863.1:p.Gly28893= | |
| XM_024453096.1:c.86112T>C (TTN) | XP_024308864.1:p.Gly28704= | |
| XM_024453097.1:c.83454T>C (TTN) | XP_024308865.1:p.Gly27818= | |
| XM_024453098.1:c.83373T>C (TTN) | XP_024308866.1:p.Gly27791= | |
| XM_024453099.1:c.65136T>C (TTN) | XP_024308867.1:p.Gly21712= | |
| XM_024453100.1:c.54990T>C (TTN) | XP_024308868.1:p.Gly18330= |