Linked Data
ClinVar Variation Id:
47569
dbSNP Id:
rs376039623
ExAC:
2:179408585 C / T
gnomAD v2:
2-179408585-C-T
gnomAD v3:
2-178543858-C-T
gnomAD v4:
2-178543858-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543858C>T , CM000664.2:g.178543858C>T | GRCh38 |
| NC_000002.11:g.179408585C>T , CM000664.1:g.179408585C>T | GRCh37 |
| NC_000002.10:g.179116831C>T | NCBI36 |
| NG_011618.3:g.291945G>A , LRG_391:g.291945G>A | |
| NG_051363.1:g.26032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88582G>A (TTN) | ENSP00000343764.6:p.Ala29528Thr | |
| ENST00000342175.11:c.69667G>A (TTN) | ENSP00000340554.6:p.Ala23223Thr | |
| ENST00000359218.10:c.69466G>A (TTN) | ENSP00000352154.5:p.Ala23156Thr | |
| ENST00000342175.10:c.69667G>A (TTN) | ENSP00000340554.6:p.Ala23223Thr | |
| ENST00000342992.10:c.88582G>A (TTN) | ENSP00000343764.6:p.Ala29528Thr | |
| ENST00000359218.9:c.69466G>A (TTN) | ENSP00000352154.5:p.Ala23156Thr | |
| ENST00000460472.6:c.69091G>A (TTN) | ENSP00000434586.1:p.Ala23031Thr | |
| ENST00000589042.5:c.96286G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala32096Thr | |
| ENST00000591111.5:c.91363G>A (TTN) | ENSP00000465570.1:p.Ala30455Thr | |
| ENST00000615779.4:c.91363G>A (TTN) | ENSP00000483597.1:p.Ala30455Thr | |
| NM_001256850.1:c.91363G>A (TTN) | NP_001243779.1:p.Ala30455Thr | |
| NM_001267550.2:c.96286G>A (TTN) MANE Select | NP_001254479.2:p.Ala32096Thr | |
| NM_003319.4:c.69091G>A (TTN) | NP_003310.4:p.Ala23031Thr | |
| NM_133378.4:c.88582G>A (TTN) | NP_596869.4:p.Ala29528Thr | |
| NM_133432.3:c.69466G>A (TTN) | NP_597676.3:p.Ala23156Thr | |
| NM_133437.4:c.69667G>A (TTN) | NP_597681.4:p.Ala23223Thr | |
| NR_038271.1:n.446+20222C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+1497C>T (TTN-AS1) | ||
| XM_011511729.1:c.95383G>A (TTN) | XP_011510031.1:p.Ala31795Thr | |
| XM_011511730.1:c.69277G>A (TTN) | XP_011510032.1:p.Ala23093Thr | |
| XM_011511731.1:c.69136G>A (TTN) | XP_011510033.1:p.Ala23046Thr | |
| XM_017004819.1:c.95179G>A (TTN) | XP_016860308.1:p.Ala31727Thr | |
| XM_017004820.1:c.90577G>A (TTN) | XP_016860309.1:p.Ala30193Thr | |
| XM_017004821.1:c.90574G>A (TTN) | XP_016860310.1:p.Ala30192Thr | |
| XM_017004822.1:c.87616G>A (TTN) | XP_016860311.1:p.Ala29206Thr | |
| XM_017004823.1:c.69232G>A (TTN) | XP_016860312.1:p.Ala23078Thr | |
| XM_024453094.1:c.90727G>A (TTN) | XP_024308862.1:p.Ala30243Thr | |
| XM_024453095.1:c.90724G>A (TTN) | XP_024308863.1:p.Ala30242Thr | |
| XM_024453096.1:c.90157G>A (TTN) | XP_024308864.1:p.Ala30053Thr | |
| XM_024453097.1:c.87499G>A (TTN) | XP_024308865.1:p.Ala29167Thr | |
| XM_024453098.1:c.87418G>A (TTN) | XP_024308866.1:p.Ala29140Thr | |
| XM_024453099.1:c.69181G>A (TTN) | XP_024308867.1:p.Ala23061Thr | |
| XM_024453100.1:c.59035G>A (TTN) | XP_024308868.1:p.Ala19679Thr |