Linked Data
ClinVar Variation Id:
47150
ClinVar RCV Id:
RCV000040420
RCV000254300
RCV000308595
RCV000284184
RCV000339177
RCV000363322
RCV000465101
RCV000399397
RCV001723623
RCV001798168
dbSNP Id:
rs367622770
ExAC:
2:179457527 C / T
gnomAD v2:
2-179457527-C-T
gnomAD v3:
2-178592800-C-T
gnomAD v4:
2-178592800-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592800C>T , CM000664.2:g.178592800C>T | GRCh38 |
| NC_000002.11:g.179457527C>T , CM000664.1:g.179457527C>T | GRCh37 |
| NC_000002.10:g.179165773C>T | NCBI36 |
| NG_011618.3:g.243003G>A , LRG_391:g.243003G>A | |
| NG_051363.1:g.74974C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51615G>A (TTN) | ENSP00000343764.6:p.Glu17205= | |
| ENST00000342175.11:c.32700G>A (TTN) | ENSP00000340554.6:p.Glu10900= | |
| ENST00000359218.10:c.32499G>A (TTN) | ENSP00000352154.5:p.Glu10833= | |
| ENST00000342175.10:c.32700G>A (TTN) | ENSP00000340554.6:p.Glu10900= | |
| ENST00000342992.10:c.51615G>A (TTN) | ENSP00000343764.6:p.Glu17205= | |
| ENST00000359218.9:c.32499G>A (TTN) | ENSP00000352154.5:p.Glu10833= | |
| ENST00000460472.6:c.32124G>A (TTN) | ENSP00000434586.1:p.Glu10708= | |
| ENST00000589042.5:c.59319G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu19773= | |
| ENST00000591111.5:c.54396G>A (TTN) | ENSP00000465570.1:p.Glu18132= | |
| ENST00000615779.4:c.54396G>A (TTN) | ENSP00000483597.1:p.Glu18132= | |
| NM_001256850.1:c.54396G>A (TTN) | NP_001243779.1:p.Glu18132= | |
| NM_001267550.2:c.59319G>A (TTN) MANE Select | NP_001254479.2:p.Glu19773= | |
| NM_003319.4:c.32124G>A (TTN) | NP_003310.4:p.Glu10708= | |
| NM_133378.4:c.51615G>A (TTN) | NP_596869.4:p.Glu17205= | |
| NM_133432.3:c.32499G>A (TTN) | NP_597676.3:p.Glu10833= | |
| NM_133437.4:c.32700G>A (TTN) | NP_597681.4:p.Glu10900= | |
| NR_038271.1:n.597-4796C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+1486C>T (TTN-AS1) | ||
| XM_011511729.1:c.58416G>A (TTN) | XP_011510031.1:p.Glu19472= | |
| XM_011511730.1:c.32310G>A (TTN) | XP_011510032.1:p.Glu10770= | |
| XM_011511731.1:c.32169G>A (TTN) | XP_011510033.1:p.Glu10723= | |
| XM_017004819.1:c.58212G>A (TTN) | XP_016860308.1:p.Glu19404= | |
| XM_017004820.1:c.53610G>A (TTN) | XP_016860309.1:p.Glu17870= | |
| XM_017004821.1:c.53607G>A (TTN) | XP_016860310.1:p.Glu17869= | |
| XM_017004822.1:c.50649G>A (TTN) | XP_016860311.1:p.Glu16883= | |
| XM_017004823.1:c.32265G>A (TTN) | XP_016860312.1:p.Glu10755= | |
| XM_024453094.1:c.53760G>A (TTN) | XP_024308862.1:p.Glu17920= | |
| XM_024453095.1:c.53757G>A (TTN) | XP_024308863.1:p.Glu17919= | |
| XM_024453096.1:c.53190G>A (TTN) | XP_024308864.1:p.Glu17730= | |
| XM_024453097.1:c.50532G>A (TTN) | XP_024308865.1:p.Glu16844= | |
| XM_024453098.1:c.50451G>A (TTN) | XP_024308866.1:p.Glu16817= | |
| XM_024453099.1:c.32214G>A (TTN) | XP_024308867.1:p.Glu10738= | |
| XM_024453100.1:c.22068G>A (TTN) | XP_024308868.1:p.Glu7356= |