Linked Data
ClinVar Variation Id:
47489
ClinVar RCV Id:
RCV000040758
RCV000172208
RCV001082145
RCV001134228
RCV001134225
RCV001134226
RCV001134227
RCV001134229
RCV001798193
RCV002362637
dbSNP Id:
rs72648238
ExAC:
2:179418306 C / T
gnomAD v2:
2-179418306-C-T
gnomAD v3:
2-178553579-C-T
gnomAD v4:
2-178553579-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178553579C>T , CM000664.2:g.178553579C>T | GRCh38 |
| NC_000002.11:g.179418306C>T , CM000664.1:g.179418306C>T | GRCh37 |
| NC_000002.10:g.179126552C>T | NCBI36 |
| NG_011618.3:g.282224G>A , LRG_391:g.282224G>A | |
| NG_051363.1:g.35753C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81722G>A (TTN) | ENSP00000343764.6:p.Arg27241Gln | |
| ENST00000342175.11:c.62807G>A (TTN) | ENSP00000340554.6:p.Arg20936Gln | |
| ENST00000359218.10:c.62606G>A (TTN) | ENSP00000352154.5:p.Arg20869Gln | |
| ENST00000342175.10:c.62807G>A (TTN) | ENSP00000340554.6:p.Arg20936Gln | |
| ENST00000342992.10:c.81722G>A (TTN) | ENSP00000343764.6:p.Arg27241Gln | |
| ENST00000359218.9:c.62606G>A (TTN) | ENSP00000352154.5:p.Arg20869Gln | |
| ENST00000460472.6:c.62231G>A (TTN) | ENSP00000434586.1:p.Arg20744Gln | |
| ENST00000589042.5:c.89426G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg29809Gln | |
| ENST00000591111.5:c.84503G>A (TTN) | ENSP00000465570.1:p.Arg28168Gln | |
| ENST00000615779.4:c.84503G>A (TTN) | ENSP00000483597.1:p.Arg28168Gln | |
| NM_001256850.1:c.84503G>A (TTN) | NP_001243779.1:p.Arg28168Gln | |
| NM_001267550.2:c.89426G>A (TTN) MANE Select | NP_001254479.2:p.Arg29809Gln | |
| NM_003319.4:c.62231G>A (TTN) | NP_003310.4:p.Arg20744Gln | |
| NM_133378.4:c.81722G>A (TTN) | NP_596869.4:p.Arg27241Gln | |
| NM_133432.3:c.62606G>A (TTN) | NP_597676.3:p.Arg20869Gln | |
| NM_133437.4:c.62807G>A (TTN) | NP_597681.4:p.Arg20936Gln | |
| NR_038271.1:n.447-17721C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+11218C>T (TTN-AS1) | ||
| XM_011511729.1:c.88523G>A (TTN) | XP_011510031.1:p.Arg29508Gln | |
| XM_011511730.1:c.62417G>A (TTN) | XP_011510032.1:p.Arg20806Gln | |
| XM_011511731.1:c.62276G>A (TTN) | XP_011510033.1:p.Arg20759Gln | |
| XM_017004819.1:c.88319G>A (TTN) | XP_016860308.1:p.Arg29440Gln | |
| XM_017004820.1:c.83717G>A (TTN) | XP_016860309.1:p.Arg27906Gln | |
| XM_017004821.1:c.83714G>A (TTN) | XP_016860310.1:p.Arg27905Gln | |
| XM_017004822.1:c.80756G>A (TTN) | XP_016860311.1:p.Arg26919Gln | |
| XM_017004823.1:c.62372G>A (TTN) | XP_016860312.1:p.Arg20791Gln | |
| XM_024453094.1:c.83867G>A (TTN) | XP_024308862.1:p.Arg27956Gln | |
| XM_024453095.1:c.83864G>A (TTN) | XP_024308863.1:p.Arg27955Gln | |
| XM_024453096.1:c.83297G>A (TTN) | XP_024308864.1:p.Arg27766Gln | |
| XM_024453097.1:c.80639G>A (TTN) | XP_024308865.1:p.Arg26880Gln | |
| XM_024453098.1:c.80558G>A (TTN) | XP_024308866.1:p.Arg26853Gln | |
| XM_024453099.1:c.62321G>A (TTN) | XP_024308867.1:p.Arg20774Gln | |
| XM_024453100.1:c.52175G>A (TTN) | XP_024308868.1:p.Arg17392Gln |