Linked Data
ClinVar Variation Id:
405081
dbSNP Id:
rs774814532
ExAC:
2:179410298 G / A
gnomAD v2:
2-179410298-G-A
gnomAD v3:
2-178545571-G-A
gnomAD v4:
2-178545571-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178545571G>A , CM000664.2:g.178545571G>A | GRCh38 |
| NC_000002.11:g.179410298G>A , CM000664.1:g.179410298G>A | GRCh37 |
| NC_000002.10:g.179118544G>A | NCBI36 |
| NG_011618.3:g.290232C>T , LRG_391:g.290232C>T | |
| NG_051363.1:g.27745G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87835C>T (TTN) | ENSP00000343764.6:p.Arg29279Cys | |
| ENST00000342175.11:c.68920C>T (TTN) | ENSP00000340554.6:p.Arg22974Cys | |
| ENST00000359218.10:c.68719C>T (TTN) | ENSP00000352154.5:p.Arg22907Cys | |
| ENST00000342175.10:c.68920C>T (TTN) | ENSP00000340554.6:p.Arg22974Cys | |
| ENST00000342992.10:c.87835C>T (TTN) | ENSP00000343764.6:p.Arg29279Cys | |
| ENST00000359218.9:c.68719C>T (TTN) | ENSP00000352154.5:p.Arg22907Cys | |
| ENST00000460472.6:c.68344C>T (TTN) | ENSP00000434586.1:p.Arg22782Cys | |
| ENST00000589042.5:c.95539C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg31847Cys | |
| ENST00000591111.5:c.90616C>T (TTN) | ENSP00000465570.1:p.Arg30206Cys | |
| ENST00000615779.4:c.90616C>T (TTN) | ENSP00000483597.1:p.Arg30206Cys | |
| NM_001256850.1:c.90616C>T (TTN) | NP_001243779.1:p.Arg30206Cys | |
| NM_001267550.2:c.95539C>T (TTN) MANE Select | NP_001254479.2:p.Arg31847Cys | |
| NM_003319.4:c.68344C>T (TTN) | NP_003310.4:p.Arg22782Cys | |
| NM_133378.4:c.87835C>T (TTN) | NP_596869.4:p.Arg29279Cys | |
| NM_133432.3:c.68719C>T (TTN) | NP_597676.3:p.Arg22907Cys | |
| NM_133437.4:c.68920C>T (TTN) | NP_597681.4:p.Arg22974Cys | |
| NR_038271.1:n.446+21935G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+3210G>A (TTN-AS1) | ||
| XM_011511729.1:c.94636C>T (TTN) | XP_011510031.1:p.Arg31546Cys | |
| XM_011511730.1:c.68530C>T (TTN) | XP_011510032.1:p.Arg22844Cys | |
| XM_011511731.1:c.68389C>T (TTN) | XP_011510033.1:p.Arg22797Cys | |
| XM_017004819.1:c.94432C>T (TTN) | XP_016860308.1:p.Arg31478Cys | |
| XM_017004820.1:c.89830C>T (TTN) | XP_016860309.1:p.Arg29944Cys | |
| XM_017004821.1:c.89827C>T (TTN) | XP_016860310.1:p.Arg29943Cys | |
| XM_017004822.1:c.86869C>T (TTN) | XP_016860311.1:p.Arg28957Cys | |
| XM_017004823.1:c.68485C>T (TTN) | XP_016860312.1:p.Arg22829Cys | |
| XM_024453094.1:c.89980C>T (TTN) | XP_024308862.1:p.Arg29994Cys | |
| XM_024453095.1:c.89977C>T (TTN) | XP_024308863.1:p.Arg29993Cys | |
| XM_024453096.1:c.89410C>T (TTN) | XP_024308864.1:p.Arg29804Cys | |
| XM_024453097.1:c.86752C>T (TTN) | XP_024308865.1:p.Arg28918Cys | |
| XM_024453098.1:c.86671C>T (TTN) | XP_024308866.1:p.Arg28891Cys | |
| XM_024453099.1:c.68434C>T (TTN) | XP_024308867.1:p.Arg22812Cys | |
| XM_024453100.1:c.58288C>T (TTN) | XP_024308868.1:p.Arg19430Cys |