Linked Data
ClinVar Variation Id:
178178
ClinVar RCV Id:
RCV000154905
RCV000264981
RCV000389752
RCV000270733
RCV000384089
RCV000329578
RCV000457318
RCV002354368
RCV004534969
dbSNP Id:
rs143975327
ExAC:
2:179422944 A / C
gnomAD v2:
2-179422944-A-C
gnomAD v3:
2-178558217-A-C
gnomAD v4:
2-178558217-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178558217A>C , CM000664.2:g.178558217A>C | GRCh38 |
| NC_000002.11:g.179422944A>C , CM000664.1:g.179422944A>C | GRCh37 |
| NC_000002.10:g.179131190A>C | NCBI36 |
| NG_011618.3:g.277586T>G , LRG_391:g.277586T>G | |
| NG_051363.1:g.40391A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79433T>G (TTN) | ENSP00000343764.6:p.Met26478Arg | |
| ENST00000342175.11:c.60518T>G (TTN) | ENSP00000340554.6:p.Met20173Arg | |
| ENST00000359218.10:c.60317T>G (TTN) | ENSP00000352154.5:p.Met20106Arg | |
| ENST00000342175.10:c.60518T>G (TTN) | ENSP00000340554.6:p.Met20173Arg | |
| ENST00000342992.10:c.79433T>G (TTN) | ENSP00000343764.6:p.Met26478Arg | |
| ENST00000359218.9:c.60317T>G (TTN) | ENSP00000352154.5:p.Met20106Arg | |
| ENST00000460472.6:c.59942T>G (TTN) | ENSP00000434586.1:p.Met19981Arg | |
| ENST00000589042.5:c.87137T>G (TTN) MANE Select | ENSP00000467141.1:p.Met29046Arg | |
| ENST00000591111.5:c.82214T>G (TTN) | ENSP00000465570.1:p.Met27405Arg | |
| ENST00000615779.4:c.82214T>G (TTN) | ENSP00000483597.1:p.Met27405Arg | |
| NM_001256850.1:c.82214T>G (TTN) | NP_001243779.1:p.Met27405Arg | |
| NM_001267550.2:c.87137T>G (TTN) MANE Select | NP_001254479.2:p.Met29046Arg | |
| NM_003319.4:c.59942T>G (TTN) | NP_003310.4:p.Met19981Arg | |
| NM_133378.4:c.79433T>G (TTN) | NP_596869.4:p.Met26478Arg | |
| NM_133432.3:c.60317T>G (TTN) | NP_597676.3:p.Met20106Arg | |
| NM_133437.4:c.60518T>G (TTN) | NP_597681.4:p.Met20173Arg | |
| NR_038271.1:n.447-13083A>C (TTN-AS1) | ||
| NR_038272.1:n.2043+15856A>C (TTN-AS1) | ||
| XM_011511729.1:c.86234T>G (TTN) | XP_011510031.1:p.Met28745Arg | |
| XM_011511730.1:c.60128T>G (TTN) | XP_011510032.1:p.Met20043Arg | |
| XM_011511731.1:c.59987T>G (TTN) | XP_011510033.1:p.Met19996Arg | |
| XM_017004819.1:c.86030T>G (TTN) | XP_016860308.1:p.Met28677Arg | |
| XM_017004820.1:c.81428T>G (TTN) | XP_016860309.1:p.Met27143Arg | |
| XM_017004821.1:c.81425T>G (TTN) | XP_016860310.1:p.Met27142Arg | |
| XM_017004822.1:c.78467T>G (TTN) | XP_016860311.1:p.Met26156Arg | |
| XM_017004823.1:c.60083T>G (TTN) | XP_016860312.1:p.Met20028Arg | |
| XM_024453094.1:c.81578T>G (TTN) | XP_024308862.1:p.Met27193Arg | |
| XM_024453095.1:c.81575T>G (TTN) | XP_024308863.1:p.Met27192Arg | |
| XM_024453096.1:c.81008T>G (TTN) | XP_024308864.1:p.Met27003Arg | |
| XM_024453097.1:c.78350T>G (TTN) | XP_024308865.1:p.Met26117Arg | |
| XM_024453098.1:c.78269T>G (TTN) | XP_024308866.1:p.Met26090Arg | |
| XM_024453099.1:c.60032T>G (TTN) | XP_024308867.1:p.Met20011Arg | |
| XM_024453100.1:c.49886T>G (TTN) | XP_024308868.1:p.Met16629Arg |