Linked Data
ClinVar Variation Id:
202874
ClinVar RCV Id:
RCV000223093
RCV000338766
RCV000342317
RCV000312841
RCV000395107
RCV000297719
RCV000398493
RCV000714096
RCV000852810
RCV001079555
RCV004539724
RCV002336490
RCV003150073
dbSNP Id:
rs369707906
ExAC:
2:179433937 C / T
gnomAD v2:
2-179433937-C-T
gnomAD v3:
2-178569210-C-T
gnomAD v4:
2-178569210-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569210C>T , CM000664.2:g.178569210C>T | GRCh38 |
| NC_000002.11:g.179433937C>T , CM000664.1:g.179433937C>T | GRCh37 |
| NC_000002.10:g.179142183C>T | NCBI36 |
| NG_011618.3:g.266593G>A , LRG_391:g.266593G>A | |
| NG_051363.1:g.51384C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69218G>A (TTN) | ENSP00000343764.6:p.Arg23073His | |
| ENST00000342175.11:c.50303G>A (TTN) | ENSP00000340554.6:p.Arg16768His | |
| ENST00000359218.10:c.50102G>A (TTN) | ENSP00000352154.5:p.Arg16701His | |
| ENST00000342175.10:c.50303G>A (TTN) | ENSP00000340554.6:p.Arg16768His | |
| ENST00000342992.10:c.69218G>A (TTN) | ENSP00000343764.6:p.Arg23073His | |
| ENST00000359218.9:c.50102G>A (TTN) | ENSP00000352154.5:p.Arg16701His | |
| ENST00000460472.6:c.49727G>A (TTN) | ENSP00000434586.1:p.Arg16576His | |
| ENST00000589042.5:c.76922G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg25641His | |
| ENST00000591111.5:c.71999G>A (TTN) | ENSP00000465570.1:p.Arg24000His | |
| ENST00000615779.4:c.71999G>A (TTN) | ENSP00000483597.1:p.Arg24000His | |
| NM_001256850.1:c.71999G>A (TTN) | NP_001243779.1:p.Arg24000His | |
| NM_001267550.2:c.76922G>A (TTN) MANE Select | NP_001254479.2:p.Arg25641His | |
| NM_003319.4:c.49727G>A (TTN) | NP_003310.4:p.Arg16576His | |
| NM_133378.4:c.69218G>A (TTN) | NP_596869.4:p.Arg23073His | |
| NM_133432.3:c.50102G>A (TTN) | NP_597676.3:p.Arg16701His | |
| NM_133437.4:c.50303G>A (TTN) | NP_597681.4:p.Arg16768His | |
| NR_038271.1:n.447-2090C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-13362C>T (TTN-AS1) | ||
| XM_011511729.1:c.76019G>A (TTN) | XP_011510031.1:p.Arg25340His | |
| XM_011511730.1:c.49913G>A (TTN) | XP_011510032.1:p.Arg16638His | |
| XM_011511731.1:c.49772G>A (TTN) | XP_011510033.1:p.Arg16591His | |
| XM_017004819.1:c.75815G>A (TTN) | XP_016860308.1:p.Arg25272His | |
| XM_017004820.1:c.71213G>A (TTN) | XP_016860309.1:p.Arg23738His | |
| XM_017004821.1:c.71210G>A (TTN) | XP_016860310.1:p.Arg23737His | |
| XM_017004822.1:c.68252G>A (TTN) | XP_016860311.1:p.Arg22751His | |
| XM_017004823.1:c.49868G>A (TTN) | XP_016860312.1:p.Arg16623His | |
| XM_024453094.1:c.71363G>A (TTN) | XP_024308862.1:p.Arg23788His | |
| XM_024453095.1:c.71360G>A (TTN) | XP_024308863.1:p.Arg23787His | |
| XM_024453096.1:c.70793G>A (TTN) | XP_024308864.1:p.Arg23598His | |
| XM_024453097.1:c.68135G>A (TTN) | XP_024308865.1:p.Arg22712His | |
| XM_024453098.1:c.68054G>A (TTN) | XP_024308866.1:p.Arg22685His | |
| XM_024453099.1:c.49817G>A (TTN) | XP_024308867.1:p.Arg16606His | |
| XM_024453100.1:c.39671G>A (TTN) | XP_024308868.1:p.Arg13224His |