Linked Data
ClinVar Variation Id:
47057
ClinVar RCV Id:
RCV000040327
RCV000227290
RCV000250975
RCV000279940
RCV000294783
RCV000334677
RCV000389173
RCV000374388
RCV000725456
RCV001170610
dbSNP Id:
rs200650668
ExAC:
2:179474228 C / A
gnomAD v2:
2-179474228-C-A
gnomAD v3:
2-178609501-C-A
gnomAD v4:
2-178609501-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609501C>A , CM000664.2:g.178609501C>A | GRCh38 |
| NC_000002.11:g.179474228C>A , CM000664.1:g.179474228C>A | GRCh37 |
| NC_000002.10:g.179182473C>A | NCBI36 |
| NG_011618.3:g.226302G>T , LRG_391:g.226302G>T | |
| NG_051363.1:g.91675C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44105G>T (TTN) | ENSP00000343764.6:p.Ser14702Ile | |
| ENST00000342175.11:c.25190G>T (TTN) | ENSP00000340554.6:p.Ser8397Ile | |
| ENST00000359218.10:c.24989G>T (TTN) | ENSP00000352154.5:p.Ser8330Ile | |
| ENST00000342175.10:c.25190G>T (TTN) | ENSP00000340554.6:p.Ser8397Ile | |
| ENST00000342992.10:c.44105G>T (TTN) | ENSP00000343764.6:p.Ser14702Ile | |
| ENST00000359218.9:c.24989G>T (TTN) | ENSP00000352154.5:p.Ser8330Ile | |
| ENST00000460472.6:c.24614G>T (TTN) | ENSP00000434586.1:p.Ser8205Ile | |
| ENST00000589042.5:c.51809G>T (TTN) MANE Select | ENSP00000467141.1:p.Ser17270Ile | |
| ENST00000591111.5:c.46886G>T (TTN) | ENSP00000465570.1:p.Ser15629Ile | |
| ENST00000615779.4:c.46886G>T (TTN) | ENSP00000483597.1:p.Ser15629Ile | |
| NM_001256850.1:c.46886G>T (TTN) | NP_001243779.1:p.Ser15629Ile | |
| NM_001267550.2:c.51809G>T (TTN) MANE Select | NP_001254479.2:p.Ser17270Ile | |
| NM_003319.4:c.24614G>T (TTN) | NP_003310.4:p.Ser8205Ile | |
| NM_133378.4:c.44105G>T (TTN) | NP_596869.4:p.Ser14702Ile | |
| NM_133432.3:c.24989G>T (TTN) | NP_597676.3:p.Ser8330Ile | |
| NM_133437.4:c.25190G>T (TTN) | NP_597681.4:p.Ser8397Ile | |
| NR_038271.1:n.782+1235C>A (TTN-AS1) | ||
| XM_011511729.1:c.50906G>T (TTN) | XP_011510031.1:p.Ser16969Ile | |
| XM_011511730.1:c.24800G>T (TTN) | XP_011510032.1:p.Ser8267Ile | |
| XM_011511731.1:c.24659G>T (TTN) | XP_011510033.1:p.Ser8220Ile | |
| XM_017004819.1:c.50702G>T (TTN) | XP_016860308.1:p.Ser16901Ile | |
| XM_017004820.1:c.46100G>T (TTN) | XP_016860309.1:p.Ser15367Ile | |
| XM_017004821.1:c.46097G>T (TTN) | XP_016860310.1:p.Ser15366Ile | |
| XM_017004822.1:c.43139G>T (TTN) | XP_016860311.1:p.Ser14380Ile | |
| XM_017004823.1:c.24755G>T (TTN) | XP_016860312.1:p.Ser8252Ile | |
| XM_024453094.1:c.46250G>T (TTN) | XP_024308862.1:p.Ser15417Ile | |
| XM_024453095.1:c.46247G>T (TTN) | XP_024308863.1:p.Ser15416Ile | |
| XM_024453096.1:c.45680G>T (TTN) | XP_024308864.1:p.Ser15227Ile | |
| XM_024453097.1:c.43022G>T (TTN) | XP_024308865.1:p.Ser14341Ile | |
| XM_024453098.1:c.42941G>T (TTN) | XP_024308866.1:p.Ser14314Ile | |
| XM_024453099.1:c.24704G>T (TTN) | XP_024308867.1:p.Ser8235Ile | |
| XM_024453100.1:c.14558G>T (TTN) | XP_024308868.1:p.Ser4853Ile |