Linked Data
ClinVar Variation Id:
195546
dbSNP Id:
rs199640194
ExAC:
2:179482565 C / T
gnomAD v2:
2-179482565-C-T
gnomAD v3:
2-178617838-C-T
gnomAD v4:
2-178617838-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617838C>T , CM000664.2:g.178617838C>T | GRCh38 |
| NC_000002.11:g.179482565C>T , CM000664.1:g.179482565C>T | GRCh37 |
| NC_000002.10:g.179190810C>T | NCBI36 |
| NG_011618.3:g.217965G>A , LRG_391:g.217965G>A | |
| NG_051363.1:g.100012C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39809G>A (TTN) | ENSP00000343764.6:p.Arg13270Gln | |
| ENST00000342175.11:c.20894G>A (TTN) | ENSP00000340554.6:p.Arg6965Gln | |
| ENST00000359218.10:c.20693G>A (TTN) | ENSP00000352154.5:p.Arg6898Gln | |
| ENST00000342175.10:c.20894G>A (TTN) | ENSP00000340554.6:p.Arg6965Gln | |
| ENST00000342992.10:c.39809G>A (TTN) | ENSP00000343764.6:p.Arg13270Gln | |
| ENST00000359218.9:c.20693G>A (TTN) | ENSP00000352154.5:p.Arg6898Gln | |
| ENST00000460472.6:c.20318G>A (TTN) | ENSP00000434586.1:p.Arg6773Gln | |
| ENST00000589042.5:c.47513G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg15838Gln | |
| ENST00000591111.5:c.42590G>A (TTN) | ENSP00000465570.1:p.Arg14197Gln | |
| ENST00000615779.4:c.42590G>A (TTN) | ENSP00000483597.1:p.Arg14197Gln | |
| NM_001256850.1:c.42590G>A (TTN) | NP_001243779.1:p.Arg14197Gln | |
| NM_001267550.2:c.47513G>A (TTN) MANE Select | NP_001254479.2:p.Arg15838Gln | |
| NM_003319.4:c.20318G>A (TTN) | NP_003310.4:p.Arg6773Gln | |
| NM_133378.4:c.39809G>A (TTN) | NP_596869.4:p.Arg13270Gln | |
| NM_133432.3:c.20693G>A (TTN) | NP_597676.3:p.Arg6898Gln | |
| NM_133437.4:c.20894G>A (TTN) | NP_597681.4:p.Arg6965Gln | |
| NR_038271.1:n.1605-1915C>T (TTN-AS1) | ||
| XM_011511729.1:c.46610G>A (TTN) | XP_011510031.1:p.Arg15537Gln | |
| XM_011511730.1:c.20504G>A (TTN) | XP_011510032.1:p.Arg6835Gln | |
| XM_011511731.1:c.20363G>A (TTN) | XP_011510033.1:p.Arg6788Gln | |
| XM_017004819.1:c.46406G>A (TTN) | XP_016860308.1:p.Arg15469Gln | |
| XM_017004820.1:c.41804G>A (TTN) | XP_016860309.1:p.Arg13935Gln | |
| XM_017004821.1:c.41801G>A (TTN) | XP_016860310.1:p.Arg13934Gln | |
| XM_017004822.1:c.38843G>A (TTN) | XP_016860311.1:p.Arg12948Gln | |
| XM_017004823.1:c.20459G>A (TTN) | XP_016860312.1:p.Arg6820Gln | |
| XM_024453094.1:c.41954G>A (TTN) | XP_024308862.1:p.Arg13985Gln | |
| XM_024453095.1:c.41951G>A (TTN) | XP_024308863.1:p.Arg13984Gln | |
| XM_024453096.1:c.41384G>A (TTN) | XP_024308864.1:p.Arg13795Gln | |
| XM_024453097.1:c.38726G>A (TTN) | XP_024308865.1:p.Arg12909Gln | |
| XM_024453098.1:c.38645G>A (TTN) | XP_024308866.1:p.Arg12882Gln | |
| XM_024453099.1:c.20408G>A (TTN) | XP_024308867.1:p.Arg6803Gln | |
| XM_024453100.1:c.10262G>A (TTN) | XP_024308868.1:p.Arg3421Gln |