Linked Data
ClinVar Variation Id:
511503
dbSNP Id:
rs182422055
ExAC:
2:179414298 A / G
gnomAD v2:
2-179414298-A-G
gnomAD v3:
2-178549571-A-G
gnomAD v4:
2-178549571-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549571A>G , CM000664.2:g.178549571A>G | GRCh38 |
| NC_000002.11:g.179414298A>G , CM000664.1:g.179414298A>G | GRCh37 |
| NC_000002.10:g.179122544A>G | NCBI36 |
| NG_011618.3:g.286232T>C , LRG_391:g.286232T>C | |
| NG_051363.1:g.31745A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84447T>C (TTN) | ENSP00000343764.6:p.Tyr28149= | |
| ENST00000342175.11:c.65532T>C (TTN) | ENSP00000340554.6:p.Tyr21844= | |
| ENST00000359218.10:c.65331T>C (TTN) | ENSP00000352154.5:p.Tyr21777= | |
| ENST00000342175.10:c.65532T>C (TTN) | ENSP00000340554.6:p.Tyr21844= | |
| ENST00000342992.10:c.84447T>C (TTN) | ENSP00000343764.6:p.Tyr28149= | |
| ENST00000359218.9:c.65331T>C (TTN) | ENSP00000352154.5:p.Tyr21777= | |
| ENST00000460472.6:c.64956T>C (TTN) | ENSP00000434586.1:p.Tyr21652= | |
| ENST00000589042.5:c.92151T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr30717= | |
| ENST00000591111.5:c.87228T>C (TTN) | ENSP00000465570.1:p.Tyr29076= | |
| ENST00000615779.4:c.87228T>C (TTN) | ENSP00000483597.1:p.Tyr29076= | |
| NM_001256850.1:c.87228T>C (TTN) | NP_001243779.1:p.Tyr29076= | |
| NM_001267550.2:c.92151T>C (TTN) MANE Select | NP_001254479.2:p.Tyr30717= | |
| NM_003319.4:c.64956T>C (TTN) | NP_003310.4:p.Tyr21652= | |
| NM_133378.4:c.84447T>C (TTN) | NP_596869.4:p.Tyr28149= | |
| NM_133432.3:c.65331T>C (TTN) | NP_597676.3:p.Tyr21777= | |
| NM_133437.4:c.65532T>C (TTN) | NP_597681.4:p.Tyr21844= | |
| NR_038271.1:n.447-21729A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+7210A>G (TTN-AS1) | ||
| XM_011511729.1:c.91248T>C (TTN) | XP_011510031.1:p.Tyr30416= | |
| XM_011511730.1:c.65142T>C (TTN) | XP_011510032.1:p.Tyr21714= | |
| XM_011511731.1:c.65001T>C (TTN) | XP_011510033.1:p.Tyr21667= | |
| XM_017004819.1:c.91044T>C (TTN) | XP_016860308.1:p.Tyr30348= | |
| XM_017004820.1:c.86442T>C (TTN) | XP_016860309.1:p.Tyr28814= | |
| XM_017004821.1:c.86439T>C (TTN) | XP_016860310.1:p.Tyr28813= | |
| XM_017004822.1:c.83481T>C (TTN) | XP_016860311.1:p.Tyr27827= | |
| XM_017004823.1:c.65097T>C (TTN) | XP_016860312.1:p.Tyr21699= | |
| XM_024453094.1:c.86592T>C (TTN) | XP_024308862.1:p.Tyr28864= | |
| XM_024453095.1:c.86589T>C (TTN) | XP_024308863.1:p.Tyr28863= | |
| XM_024453096.1:c.86022T>C (TTN) | XP_024308864.1:p.Tyr28674= | |
| XM_024453097.1:c.83364T>C (TTN) | XP_024308865.1:p.Tyr27788= | |
| XM_024453098.1:c.83283T>C (TTN) | XP_024308866.1:p.Tyr27761= | |
| XM_024453099.1:c.65046T>C (TTN) | XP_024308867.1:p.Tyr21682= | |
| XM_024453100.1:c.54900T>C (TTN) | XP_024308868.1:p.Tyr18300= |