Linked Data
ClinVar Variation Id:
47507
ClinVar RCV Id:
RCV000040776
RCV000234492
RCV000769884
RCV001133860
RCV001085113
RCV001133859
RCV001133861
RCV001133857
RCV001133858
RCV002362641
dbSNP Id:
rs193022702
ExAC:
2:179415911 A / G
gnomAD v2:
2-179415911-A-G
gnomAD v3:
2-178551184-A-G
gnomAD v4:
2-178551184-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551184A>G , CM000664.2:g.178551184A>G | GRCh38 |
| NC_000002.11:g.179415911A>G , CM000664.1:g.179415911A>G | GRCh37 |
| NC_000002.10:g.179124157A>G | NCBI36 |
| NG_011618.3:g.284619T>C , LRG_391:g.284619T>C | |
| NG_051363.1:g.33358A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83643T>C (TTN) | ENSP00000343764.6:p.Asp27881= | |
| ENST00000342175.11:c.64728T>C (TTN) | ENSP00000340554.6:p.Asp21576= | |
| ENST00000359218.10:c.64527T>C (TTN) | ENSP00000352154.5:p.Asp21509= | |
| ENST00000342175.10:c.64728T>C (TTN) | ENSP00000340554.6:p.Asp21576= | |
| ENST00000342992.10:c.83643T>C (TTN) | ENSP00000343764.6:p.Asp27881= | |
| ENST00000359218.9:c.64527T>C (TTN) | ENSP00000352154.5:p.Asp21509= | |
| ENST00000460472.6:c.64152T>C (TTN) | ENSP00000434586.1:p.Asp21384= | |
| ENST00000589042.5:c.91347T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp30449= | |
| ENST00000591111.5:c.86424T>C (TTN) | ENSP00000465570.1:p.Asp28808= | |
| ENST00000615779.4:c.86424T>C (TTN) | ENSP00000483597.1:p.Asp28808= | |
| NM_001256850.1:c.86424T>C (TTN) | NP_001243779.1:p.Asp28808= | |
| NM_001267550.2:c.91347T>C (TTN) MANE Select | NP_001254479.2:p.Asp30449= | |
| NM_003319.4:c.64152T>C (TTN) | NP_003310.4:p.Asp21384= | |
| NM_133378.4:c.83643T>C (TTN) | NP_596869.4:p.Asp27881= | |
| NM_133432.3:c.64527T>C (TTN) | NP_597676.3:p.Asp21509= | |
| NM_133437.4:c.64728T>C (TTN) | NP_597681.4:p.Asp21576= | |
| NR_038271.1:n.447-20116A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+8823A>G (TTN-AS1) | ||
| XM_011511729.1:c.90444T>C (TTN) | XP_011510031.1:p.Asp30148= | |
| XM_011511730.1:c.64338T>C (TTN) | XP_011510032.1:p.Asp21446= | |
| XM_011511731.1:c.64197T>C (TTN) | XP_011510033.1:p.Asp21399= | |
| XM_017004819.1:c.90240T>C (TTN) | XP_016860308.1:p.Asp30080= | |
| XM_017004820.1:c.85638T>C (TTN) | XP_016860309.1:p.Asp28546= | |
| XM_017004821.1:c.85635T>C (TTN) | XP_016860310.1:p.Asp28545= | |
| XM_017004822.1:c.82677T>C (TTN) | XP_016860311.1:p.Asp27559= | |
| XM_017004823.1:c.64293T>C (TTN) | XP_016860312.1:p.Asp21431= | |
| XM_024453094.1:c.85788T>C (TTN) | XP_024308862.1:p.Asp28596= | |
| XM_024453095.1:c.85785T>C (TTN) | XP_024308863.1:p.Asp28595= | |
| XM_024453096.1:c.85218T>C (TTN) | XP_024308864.1:p.Asp28406= | |
| XM_024453097.1:c.82560T>C (TTN) | XP_024308865.1:p.Asp27520= | |
| XM_024453098.1:c.82479T>C (TTN) | XP_024308866.1:p.Asp27493= | |
| XM_024453099.1:c.64242T>C (TTN) | XP_024308867.1:p.Asp21414= | |
| XM_024453100.1:c.54096T>C (TTN) | XP_024308868.1:p.Asp18032= |