Linked Data
ClinVar Variation Id:
332813
dbSNP Id:
rs558727238
ExAC:
2:179452847 A / T
gnomAD v2:
2-179452847-A-T
gnomAD v3:
2-178588120-A-T
gnomAD v4:
2-178588120-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178588120A>T , CM000664.2:g.178588120A>T | GRCh38 |
| NC_000002.11:g.179452847A>T , CM000664.1:g.179452847A>T | GRCh37 |
| NC_000002.10:g.179161093A>T | NCBI36 |
| NG_011618.3:g.247683T>A , LRG_391:g.247683T>A | |
| NG_051363.1:g.70294A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55583T>A (TTN) | ENSP00000343764.6:p.Ile18528Asn | |
| ENST00000342175.11:c.36668T>A (TTN) | ENSP00000340554.6:p.Ile12223Asn | |
| ENST00000359218.10:c.36467T>A (TTN) | ENSP00000352154.5:p.Ile12156Asn | |
| ENST00000342175.10:c.36668T>A (TTN) | ENSP00000340554.6:p.Ile12223Asn | |
| ENST00000342992.10:c.55583T>A (TTN) | ENSP00000343764.6:p.Ile18528Asn | |
| ENST00000359218.9:c.36467T>A (TTN) | ENSP00000352154.5:p.Ile12156Asn | |
| ENST00000460472.6:c.36092T>A (TTN) | ENSP00000434586.1:p.Ile12031Asn | |
| ENST00000589042.5:c.63287T>A (TTN) MANE Select | ENSP00000467141.1:p.Ile21096Asn | |
| ENST00000591111.5:c.58364T>A (TTN) | ENSP00000465570.1:p.Ile19455Asn | |
| ENST00000615779.4:c.58364T>A (TTN) | ENSP00000483597.1:p.Ile19455Asn | |
| NM_001256850.1:c.58364T>A (TTN) | NP_001243779.1:p.Ile19455Asn | |
| NM_001267550.2:c.63287T>A (TTN) MANE Select | NP_001254479.2:p.Ile21096Asn | |
| NM_003319.4:c.36092T>A (TTN) | NP_003310.4:p.Ile12031Asn | |
| NM_133378.4:c.55583T>A (TTN) | NP_596869.4:p.Ile18528Asn | |
| NM_133432.3:c.36467T>A (TTN) | NP_597676.3:p.Ile12156Asn | |
| NM_133437.4:c.36668T>A (TTN) | NP_597681.4:p.Ile12223Asn | |
| NR_038271.1:n.597-9476A>T (TTN-AS1) | ||
| NR_038272.1:n.3189-3019A>T (TTN-AS1) | ||
| XM_011511729.1:c.62384T>A (TTN) | XP_011510031.1:p.Ile20795Asn | |
| XM_011511730.1:c.36278T>A (TTN) | XP_011510032.1:p.Ile12093Asn | |
| XM_011511731.1:c.36137T>A (TTN) | XP_011510033.1:p.Ile12046Asn | |
| XM_017004819.1:c.62180T>A (TTN) | XP_016860308.1:p.Ile20727Asn | |
| XM_017004820.1:c.57578T>A (TTN) | XP_016860309.1:p.Ile19193Asn | |
| XM_017004821.1:c.57575T>A (TTN) | XP_016860310.1:p.Ile19192Asn | |
| XM_017004822.1:c.54617T>A (TTN) | XP_016860311.1:p.Ile18206Asn | |
| XM_017004823.1:c.36233T>A (TTN) | XP_016860312.1:p.Ile12078Asn | |
| XM_024453094.1:c.57728T>A (TTN) | XP_024308862.1:p.Ile19243Asn | |
| XM_024453095.1:c.57725T>A (TTN) | XP_024308863.1:p.Ile19242Asn | |
| XM_024453096.1:c.57158T>A (TTN) | XP_024308864.1:p.Ile19053Asn | |
| XM_024453097.1:c.54500T>A (TTN) | XP_024308865.1:p.Ile18167Asn | |
| XM_024453098.1:c.54419T>A (TTN) | XP_024308866.1:p.Ile18140Asn | |
| XM_024453099.1:c.36182T>A (TTN) | XP_024308867.1:p.Ile12061Asn | |
| XM_024453100.1:c.26036T>A (TTN) | XP_024308868.1:p.Ile8679Asn |