Linked Data
ClinVar Variation Id:
166007
ClinVar RCV Id:
RCV000152342
RCV000532690
RCV000836249
RCV001130784
RCV001130783
RCV001133746
RCV001133747
RCV001133745
dbSNP Id:
rs138896856
ExAC:
2:179476556 C / T
gnomAD v2:
2-179476556-C-T
gnomAD v3:
2-178611829-C-T
gnomAD v4:
2-178611829-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611829C>T , CM000664.2:g.178611829C>T | GRCh38 |
| NC_000002.11:g.179476556C>T , CM000664.1:g.179476556C>T | GRCh37 |
| NC_000002.10:g.179184801C>T | NCBI36 |
| NG_011618.3:g.223974G>A , LRG_391:g.223974G>A | |
| NG_051363.1:g.94003C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42776G>A (TTN) | ENSP00000343764.6:p.Arg14259Gln | |
| ENST00000342175.11:c.23861G>A (TTN) | ENSP00000340554.6:p.Arg7954Gln | |
| ENST00000359218.10:c.23660G>A (TTN) | ENSP00000352154.5:p.Arg7887Gln | |
| ENST00000342175.10:c.23861G>A (TTN) | ENSP00000340554.6:p.Arg7954Gln | |
| ENST00000342992.10:c.42776G>A (TTN) | ENSP00000343764.6:p.Arg14259Gln | |
| ENST00000359218.9:c.23660G>A (TTN) | ENSP00000352154.5:p.Arg7887Gln | |
| ENST00000460472.6:c.23285G>A (TTN) | ENSP00000434586.1:p.Arg7762Gln | |
| ENST00000589042.5:c.50480G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg16827Gln | |
| ENST00000591111.5:c.45557G>A (TTN) | ENSP00000465570.1:p.Arg15186Gln | |
| ENST00000615779.4:c.45557G>A (TTN) | ENSP00000483597.1:p.Arg15186Gln | |
| NM_001256850.1:c.45557G>A (TTN) | NP_001243779.1:p.Arg15186Gln | |
| NM_001267550.2:c.50480G>A (TTN) MANE Select | NP_001254479.2:p.Arg16827Gln | |
| NM_003319.4:c.23285G>A (TTN) | NP_003310.4:p.Arg7762Gln | |
| NM_133378.4:c.42776G>A (TTN) | NP_596869.4:p.Arg14259Gln | |
| NM_133432.3:c.23660G>A (TTN) | NP_597676.3:p.Arg7887Gln | |
| NM_133437.4:c.23861G>A (TTN) | NP_597681.4:p.Arg7954Gln | |
| NR_038271.1:n.783-2206C>T (TTN-AS1) | ||
| XM_011511729.1:c.49577G>A (TTN) | XP_011510031.1:p.Arg16526Gln | |
| XM_011511730.1:c.23471G>A (TTN) | XP_011510032.1:p.Arg7824Gln | |
| XM_011511731.1:c.23330G>A (TTN) | XP_011510033.1:p.Arg7777Gln | |
| XM_017004819.1:c.49373G>A (TTN) | XP_016860308.1:p.Arg16458Gln | |
| XM_017004820.1:c.44771G>A (TTN) | XP_016860309.1:p.Arg14924Gln | |
| XM_017004821.1:c.44768G>A (TTN) | XP_016860310.1:p.Arg14923Gln | |
| XM_017004822.1:c.41810G>A (TTN) | XP_016860311.1:p.Arg13937Gln | |
| XM_017004823.1:c.23426G>A (TTN) | XP_016860312.1:p.Arg7809Gln | |
| XM_024453094.1:c.44921G>A (TTN) | XP_024308862.1:p.Arg14974Gln | |
| XM_024453095.1:c.44918G>A (TTN) | XP_024308863.1:p.Arg14973Gln | |
| XM_024453096.1:c.44351G>A (TTN) | XP_024308864.1:p.Arg14784Gln | |
| XM_024453097.1:c.41693G>A (TTN) | XP_024308865.1:p.Arg13898Gln | |
| XM_024453098.1:c.41612G>A (TTN) | XP_024308866.1:p.Arg13871Gln | |
| XM_024453099.1:c.23375G>A (TTN) | XP_024308867.1:p.Arg7792Gln | |
| XM_024453100.1:c.13229G>A (TTN) | XP_024308868.1:p.Arg4410Gln |