Linked Data
ClinVar Variation Id:
192159
ClinVar RCV Id:
RCV000172645
RCV000222300
RCV000242642
RCV000475296
RCV000768939
RCV001132543
RCV001132544
RCV001129848
RCV001132542
RCV001132541
dbSNP Id:
rs200144345
ExAC:
2:179439823 C / T
gnomAD v2:
2-179439823-C-T
gnomAD v3:
2-178575096-C-T
gnomAD v4:
2-178575096-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575096C>T , CM000664.2:g.178575096C>T | GRCh38 |
| NC_000002.11:g.179439823C>T , CM000664.1:g.179439823C>T | GRCh37 |
| NC_000002.10:g.179148069C>T | NCBI36 |
| NG_011618.3:g.260707G>A , LRG_391:g.260707G>A | |
| NG_051363.1:g.57270C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63332G>A (TTN) | ENSP00000343764.6:p.Arg21111Lys | |
| ENST00000342175.11:c.44417G>A (TTN) | ENSP00000340554.6:p.Arg14806Lys | |
| ENST00000359218.10:c.44216G>A (TTN) | ENSP00000352154.5:p.Arg14739Lys | |
| ENST00000342175.10:c.44417G>A (TTN) | ENSP00000340554.6:p.Arg14806Lys | |
| ENST00000342992.10:c.63332G>A (TTN) | ENSP00000343764.6:p.Arg21111Lys | |
| ENST00000359218.9:c.44216G>A (TTN) | ENSP00000352154.5:p.Arg14739Lys | |
| ENST00000460472.6:c.43841G>A (TTN) | ENSP00000434586.1:p.Arg14614Lys | |
| ENST00000589042.5:c.71036G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg23679Lys | |
| ENST00000591111.5:c.66113G>A (TTN) | ENSP00000465570.1:p.Arg22038Lys | |
| ENST00000615779.4:c.66113G>A (TTN) | ENSP00000483597.1:p.Arg22038Lys | |
| NM_001256850.1:c.66113G>A (TTN) | NP_001243779.1:p.Arg22038Lys | |
| NM_001267550.2:c.71036G>A (TTN) MANE Select | NP_001254479.2:p.Arg23679Lys | |
| NM_003319.4:c.43841G>A (TTN) | NP_003310.4:p.Arg14614Lys | |
| NM_133378.4:c.63332G>A (TTN) | NP_596869.4:p.Arg21111Lys | |
| NM_133432.3:c.44216G>A (TTN) | NP_597676.3:p.Arg14739Lys | |
| NM_133437.4:c.44417G>A (TTN) | NP_597681.4:p.Arg14806Lys | |
| NR_038271.1:n.596+3647C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-7476C>T (TTN-AS1) | ||
| XM_011511729.1:c.70133G>A (TTN) | XP_011510031.1:p.Arg23378Lys | |
| XM_011511730.1:c.44027G>A (TTN) | XP_011510032.1:p.Arg14676Lys | |
| XM_011511731.1:c.43886G>A (TTN) | XP_011510033.1:p.Arg14629Lys | |
| XM_017004819.1:c.69929G>A (TTN) | XP_016860308.1:p.Arg23310Lys | |
| XM_017004820.1:c.65327G>A (TTN) | XP_016860309.1:p.Arg21776Lys | |
| XM_017004821.1:c.65324G>A (TTN) | XP_016860310.1:p.Arg21775Lys | |
| XM_017004822.1:c.62366G>A (TTN) | XP_016860311.1:p.Arg20789Lys | |
| XM_017004823.1:c.43982G>A (TTN) | XP_016860312.1:p.Arg14661Lys | |
| XM_024453094.1:c.65477G>A (TTN) | XP_024308862.1:p.Arg21826Lys | |
| XM_024453095.1:c.65474G>A (TTN) | XP_024308863.1:p.Arg21825Lys | |
| XM_024453096.1:c.64907G>A (TTN) | XP_024308864.1:p.Arg21636Lys | |
| XM_024453097.1:c.62249G>A (TTN) | XP_024308865.1:p.Arg20750Lys | |
| XM_024453098.1:c.62168G>A (TTN) | XP_024308866.1:p.Arg20723Lys | |
| XM_024453099.1:c.43931G>A (TTN) | XP_024308867.1:p.Arg14644Lys | |
| XM_024453100.1:c.33785G>A (TTN) | XP_024308868.1:p.Arg11262Lys |