Linked Data
ClinVar Variation Id:
191875
ClinVar RCV Id:
RCV000172231
RCV000222897
RCV000271952
RCV000277111
RCV000312262
RCV000366922
RCV000366443
RCV001085618
RCV001170784
RCV002345589
RCV004539587
dbSNP Id:
rs185002960
ExAC:
2:179427796 C / T
gnomAD v2:
2-179427796-C-T
gnomAD v3:
2-178563069-C-T
gnomAD v4:
2-178563069-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563069C>T , CM000664.2:g.178563069C>T | GRCh38 |
| NC_000002.11:g.179427796C>T , CM000664.1:g.179427796C>T | GRCh37 |
| NC_000002.10:g.179136042C>T | NCBI36 |
| NG_011618.3:g.272734G>A , LRG_391:g.272734G>A | |
| NG_051363.1:g.45243C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75359G>A (TTN) | ENSP00000343764.6:p.Arg25120His | |
| ENST00000342175.11:c.56444G>A (TTN) | ENSP00000340554.6:p.Arg18815His | |
| ENST00000359218.10:c.56243G>A (TTN) | ENSP00000352154.5:p.Arg18748His | |
| ENST00000342175.10:c.56444G>A (TTN) | ENSP00000340554.6:p.Arg18815His | |
| ENST00000342992.10:c.75359G>A (TTN) | ENSP00000343764.6:p.Arg25120His | |
| ENST00000359218.9:c.56243G>A (TTN) | ENSP00000352154.5:p.Arg18748His | |
| ENST00000460472.6:c.55868G>A (TTN) | ENSP00000434586.1:p.Arg18623His | |
| ENST00000589042.5:c.83063G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg27688His | |
| ENST00000591111.5:c.78140G>A (TTN) | ENSP00000465570.1:p.Arg26047His | |
| ENST00000615779.4:c.78140G>A (TTN) | ENSP00000483597.1:p.Arg26047His | |
| NM_001256850.1:c.78140G>A (TTN) | NP_001243779.1:p.Arg26047His | |
| NM_001267550.2:c.83063G>A (TTN) MANE Select | NP_001254479.2:p.Arg27688His | |
| NM_003319.4:c.55868G>A (TTN) | NP_003310.4:p.Arg18623His | |
| NM_133378.4:c.75359G>A (TTN) | NP_596869.4:p.Arg25120His | |
| NM_133432.3:c.56243G>A (TTN) | NP_597676.3:p.Arg18748His | |
| NM_133437.4:c.56444G>A (TTN) | NP_597681.4:p.Arg18815His | |
| NR_038271.1:n.447-8231C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-19503C>T (TTN-AS1) | ||
| XM_011511729.1:c.82160G>A (TTN) | XP_011510031.1:p.Arg27387His | |
| XM_011511730.1:c.56054G>A (TTN) | XP_011510032.1:p.Arg18685His | |
| XM_011511731.1:c.55913G>A (TTN) | XP_011510033.1:p.Arg18638His | |
| XM_017004819.1:c.81956G>A (TTN) | XP_016860308.1:p.Arg27319His | |
| XM_017004820.1:c.77354G>A (TTN) | XP_016860309.1:p.Arg25785His | |
| XM_017004821.1:c.77351G>A (TTN) | XP_016860310.1:p.Arg25784His | |
| XM_017004822.1:c.74393G>A (TTN) | XP_016860311.1:p.Arg24798His | |
| XM_017004823.1:c.56009G>A (TTN) | XP_016860312.1:p.Arg18670His | |
| XM_024453094.1:c.77504G>A (TTN) | XP_024308862.1:p.Arg25835His | |
| XM_024453095.1:c.77501G>A (TTN) | XP_024308863.1:p.Arg25834His | |
| XM_024453096.1:c.76934G>A (TTN) | XP_024308864.1:p.Arg25645His | |
| XM_024453097.1:c.74276G>A (TTN) | XP_024308865.1:p.Arg24759His | |
| XM_024453098.1:c.74195G>A (TTN) | XP_024308866.1:p.Arg24732His | |
| XM_024453099.1:c.55958G>A (TTN) | XP_024308867.1:p.Arg18653His | |
| XM_024453100.1:c.45812G>A (TTN) | XP_024308868.1:p.Arg15271His |