Linked Data
ClinVar Variation Id:
332773
ClinVar RCV Id:
RCV000282564
RCV000336442
RCV000337388
RCV000380556
RCV000372311
RCV002348081
RCV003137944
dbSNP Id:
rs377668457
ExAC:
2:179432458 C / T
gnomAD v2:
2-179432458-C-T
gnomAD v3:
2-178567731-C-T
gnomAD v4:
2-178567731-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567731C>T , CM000664.2:g.178567731C>T | GRCh38 |
| NC_000002.11:g.179432458C>T , CM000664.1:g.179432458C>T | GRCh37 |
| NC_000002.10:g.179140704C>T | NCBI36 |
| NG_011618.3:g.268072G>A , LRG_391:g.268072G>A | |
| NG_051363.1:g.49905C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70697G>A (TTN) | ENSP00000343764.6:p.Arg23566His | |
| ENST00000342175.11:c.51782G>A (TTN) | ENSP00000340554.6:p.Arg17261His | |
| ENST00000359218.10:c.51581G>A (TTN) | ENSP00000352154.5:p.Arg17194His | |
| ENST00000342175.10:c.51782G>A (TTN) | ENSP00000340554.6:p.Arg17261His | |
| ENST00000342992.10:c.70697G>A (TTN) | ENSP00000343764.6:p.Arg23566His | |
| ENST00000359218.9:c.51581G>A (TTN) | ENSP00000352154.5:p.Arg17194His | |
| ENST00000460472.6:c.51206G>A (TTN) | ENSP00000434586.1:p.Arg17069His | |
| ENST00000589042.5:c.78401G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg26134His | |
| ENST00000591111.5:c.73478G>A (TTN) | ENSP00000465570.1:p.Arg24493His | |
| ENST00000615779.4:c.73478G>A (TTN) | ENSP00000483597.1:p.Arg24493His | |
| NM_001256850.1:c.73478G>A (TTN) | NP_001243779.1:p.Arg24493His | |
| NM_001267550.2:c.78401G>A (TTN) MANE Select | NP_001254479.2:p.Arg26134His | |
| NM_003319.4:c.51206G>A (TTN) | NP_003310.4:p.Arg17069His | |
| NM_133378.4:c.70697G>A (TTN) | NP_596869.4:p.Arg23566His | |
| NM_133432.3:c.51581G>A (TTN) | NP_597676.3:p.Arg17194His | |
| NM_133437.4:c.51782G>A (TTN) | NP_597681.4:p.Arg17261His | |
| NR_038271.1:n.447-3569C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-14841C>T (TTN-AS1) | ||
| XM_011511729.1:c.77498G>A (TTN) | XP_011510031.1:p.Arg25833His | |
| XM_011511730.1:c.51392G>A (TTN) | XP_011510032.1:p.Arg17131His | |
| XM_011511731.1:c.51251G>A (TTN) | XP_011510033.1:p.Arg17084His | |
| XM_017004819.1:c.77294G>A (TTN) | XP_016860308.1:p.Arg25765His | |
| XM_017004820.1:c.72692G>A (TTN) | XP_016860309.1:p.Arg24231His | |
| XM_017004821.1:c.72689G>A (TTN) | XP_016860310.1:p.Arg24230His | |
| XM_017004822.1:c.69731G>A (TTN) | XP_016860311.1:p.Arg23244His | |
| XM_017004823.1:c.51347G>A (TTN) | XP_016860312.1:p.Arg17116His | |
| XM_024453094.1:c.72842G>A (TTN) | XP_024308862.1:p.Arg24281His | |
| XM_024453095.1:c.72839G>A (TTN) | XP_024308863.1:p.Arg24280His | |
| XM_024453096.1:c.72272G>A (TTN) | XP_024308864.1:p.Arg24091His | |
| XM_024453097.1:c.69614G>A (TTN) | XP_024308865.1:p.Arg23205His | |
| XM_024453098.1:c.69533G>A (TTN) | XP_024308866.1:p.Arg23178His | |
| XM_024453099.1:c.51296G>A (TTN) | XP_024308867.1:p.Arg17099His | |
| XM_024453100.1:c.41150G>A (TTN) | XP_024308868.1:p.Arg13717His |