Linked Data
ClinVar Variation Id:
332772
ClinVar RCV Id:
RCV000272128
RCV000321296
RCV000329566
RCV000368961
RCV000381870
RCV002057617
RCV002338921
dbSNP Id:
rs886055244
gnomAD v2:
2-179432205-A-G
gnomAD v3:
2-178567478-A-G
gnomAD v4:
2-178567478-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567478A>G , CM000664.2:g.178567478A>G | GRCh38 |
| NC_000002.11:g.179432205A>G , CM000664.1:g.179432205A>G | GRCh37 |
| NC_000002.10:g.179140451A>G | NCBI36 |
| NG_011618.3:g.268325T>C , LRG_391:g.268325T>C | |
| NG_051363.1:g.49652A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70950T>C (TTN) | ENSP00000343764.6:p.His23650= | |
| ENST00000342175.11:c.52035T>C (TTN) | ENSP00000340554.6:p.His17345= | |
| ENST00000359218.10:c.51834T>C (TTN) | ENSP00000352154.5:p.His17278= | |
| ENST00000342175.10:c.52035T>C (TTN) | ENSP00000340554.6:p.His17345= | |
| ENST00000342992.10:c.70950T>C (TTN) | ENSP00000343764.6:p.His23650= | |
| ENST00000359218.9:c.51834T>C (TTN) | ENSP00000352154.5:p.His17278= | |
| ENST00000460472.6:c.51459T>C (TTN) | ENSP00000434586.1:p.His17153= | |
| ENST00000589042.5:c.78654T>C (TTN) MANE Select | ENSP00000467141.1:p.His26218= | |
| ENST00000591111.5:c.73731T>C (TTN) | ENSP00000465570.1:p.His24577= | |
| ENST00000615779.4:c.73731T>C (TTN) | ENSP00000483597.1:p.His24577= | |
| NM_001256850.1:c.73731T>C (TTN) | NP_001243779.1:p.His24577= | |
| NM_001267550.2:c.78654T>C (TTN) MANE Select | NP_001254479.2:p.His26218= | |
| NM_003319.4:c.51459T>C (TTN) | NP_003310.4:p.His17153= | |
| NM_133378.4:c.70950T>C (TTN) | NP_596869.4:p.His23650= | |
| NM_133432.3:c.51834T>C (TTN) | NP_597676.3:p.His17278= | |
| NM_133437.4:c.52035T>C (TTN) | NP_597681.4:p.His17345= | |
| NR_038271.1:n.447-3822A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-15094A>G (TTN-AS1) | ||
| XM_011511729.1:c.77751T>C (TTN) | XP_011510031.1:p.His25917= | |
| XM_011511730.1:c.51645T>C (TTN) | XP_011510032.1:p.His17215= | |
| XM_011511731.1:c.51504T>C (TTN) | XP_011510033.1:p.His17168= | |
| XM_017004819.1:c.77547T>C (TTN) | XP_016860308.1:p.His25849= | |
| XM_017004820.1:c.72945T>C (TTN) | XP_016860309.1:p.His24315= | |
| XM_017004821.1:c.72942T>C (TTN) | XP_016860310.1:p.His24314= | |
| XM_017004822.1:c.69984T>C (TTN) | XP_016860311.1:p.His23328= | |
| XM_017004823.1:c.51600T>C (TTN) | XP_016860312.1:p.His17200= | |
| XM_024453094.1:c.73095T>C (TTN) | XP_024308862.1:p.His24365= | |
| XM_024453095.1:c.73092T>C (TTN) | XP_024308863.1:p.His24364= | |
| XM_024453096.1:c.72525T>C (TTN) | XP_024308864.1:p.His24175= | |
| XM_024453097.1:c.69867T>C (TTN) | XP_024308865.1:p.His23289= | |
| XM_024453098.1:c.69786T>C (TTN) | XP_024308866.1:p.His23262= | |
| XM_024453099.1:c.51549T>C (TTN) | XP_024308867.1:p.His17183= | |
| XM_024453100.1:c.41403T>C (TTN) | XP_024308868.1:p.His13801= |