Linked Data
ClinVar Variation Id:
178191
dbSNP Id:
rs200317412
ExAC:
2:179438272 C / T
gnomAD v2:
2-179438272-C-T
gnomAD v3:
2-178573545-C-T
gnomAD v4:
2-178573545-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573545C>T , CM000664.2:g.178573545C>T | GRCh38 |
| NC_000002.11:g.179438272C>T , CM000664.1:g.179438272C>T | GRCh37 |
| NC_000002.10:g.179146518C>T | NCBI36 |
| NG_011618.3:g.262258G>A , LRG_391:g.262258G>A | |
| NG_051363.1:g.55719C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.64883G>A (TTN) | ENSP00000343764.6:p.Arg21628His | |
| ENST00000342175.11:c.45968G>A (TTN) | ENSP00000340554.6:p.Arg15323His | |
| ENST00000359218.10:c.45767G>A (TTN) | ENSP00000352154.5:p.Arg15256His | |
| ENST00000342175.10:c.45968G>A (TTN) | ENSP00000340554.6:p.Arg15323His | |
| ENST00000342992.10:c.64883G>A (TTN) | ENSP00000343764.6:p.Arg21628His | |
| ENST00000359218.9:c.45767G>A (TTN) | ENSP00000352154.5:p.Arg15256His | |
| ENST00000460472.6:c.45392G>A (TTN) | ENSP00000434586.1:p.Arg15131His | |
| ENST00000589042.5:c.72587G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg24196His | |
| ENST00000591111.5:c.67664G>A (TTN) | ENSP00000465570.1:p.Arg22555His | |
| ENST00000615779.4:c.67664G>A (TTN) | ENSP00000483597.1:p.Arg22555His | |
| NM_001256850.1:c.67664G>A (TTN) | NP_001243779.1:p.Arg22555His | |
| NM_001267550.2:c.72587G>A (TTN) MANE Select | NP_001254479.2:p.Arg24196His | |
| NM_003319.4:c.45392G>A (TTN) | NP_003310.4:p.Arg15131His | |
| NM_133378.4:c.64883G>A (TTN) | NP_596869.4:p.Arg21628His | |
| NM_133432.3:c.45767G>A (TTN) | NP_597676.3:p.Arg15256His | |
| NM_133437.4:c.45968G>A (TTN) | NP_597681.4:p.Arg15323His | |
| NR_038271.1:n.596+2096C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-9027C>T (TTN-AS1) | ||
| XM_011511729.1:c.71684G>A (TTN) | XP_011510031.1:p.Arg23895His | |
| XM_011511730.1:c.45578G>A (TTN) | XP_011510032.1:p.Arg15193His | |
| XM_011511731.1:c.45437G>A (TTN) | XP_011510033.1:p.Arg15146His | |
| XM_017004819.1:c.71480G>A (TTN) | XP_016860308.1:p.Arg23827His | |
| XM_017004820.1:c.66878G>A (TTN) | XP_016860309.1:p.Arg22293His | |
| XM_017004821.1:c.66875G>A (TTN) | XP_016860310.1:p.Arg22292His | |
| XM_017004822.1:c.63917G>A (TTN) | XP_016860311.1:p.Arg21306His | |
| XM_017004823.1:c.45533G>A (TTN) | XP_016860312.1:p.Arg15178His | |
| XM_024453094.1:c.67028G>A (TTN) | XP_024308862.1:p.Arg22343His | |
| XM_024453095.1:c.67025G>A (TTN) | XP_024308863.1:p.Arg22342His | |
| XM_024453096.1:c.66458G>A (TTN) | XP_024308864.1:p.Arg22153His | |
| XM_024453097.1:c.63800G>A (TTN) | XP_024308865.1:p.Arg21267His | |
| XM_024453098.1:c.63719G>A (TTN) | XP_024308866.1:p.Arg21240His | |
| XM_024453099.1:c.45482G>A (TTN) | XP_024308867.1:p.Arg15161His | |
| XM_024453100.1:c.35336G>A (TTN) | XP_024308868.1:p.Arg11779His |