Linked Data
ClinVar Variation Id:
196082
dbSNP Id:
rs372782502
ExAC:
2:179440762 A / G
gnomAD v2:
2-179440762-A-G
gnomAD v3:
2-178576035-A-G
gnomAD v4:
2-178576035-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576035A>G , CM000664.2:g.178576035A>G | GRCh38 |
| NC_000002.11:g.179440762A>G , CM000664.1:g.179440762A>G | GRCh37 |
| NC_000002.10:g.179149008A>G | NCBI36 |
| NG_011618.3:g.259768T>C , LRG_391:g.259768T>C | |
| NG_051363.1:g.58209A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62393T>C (TTN) | ENSP00000343764.6:p.Val20798Ala | |
| ENST00000342175.11:c.43478T>C (TTN) | ENSP00000340554.6:p.Val14493Ala | |
| ENST00000359218.10:c.43277T>C (TTN) | ENSP00000352154.5:p.Val14426Ala | |
| ENST00000342175.10:c.43478T>C (TTN) | ENSP00000340554.6:p.Val14493Ala | |
| ENST00000342992.10:c.62393T>C (TTN) | ENSP00000343764.6:p.Val20798Ala | |
| ENST00000359218.9:c.43277T>C (TTN) | ENSP00000352154.5:p.Val14426Ala | |
| ENST00000460472.6:c.42902T>C (TTN) | ENSP00000434586.1:p.Val14301Ala | |
| ENST00000589042.5:c.70097T>C (TTN) MANE Select | ENSP00000467141.1:p.Val23366Ala | |
| ENST00000591111.5:c.65174T>C (TTN) | ENSP00000465570.1:p.Val21725Ala | |
| ENST00000615779.4:c.65174T>C (TTN) | ENSP00000483597.1:p.Val21725Ala | |
| NM_001256850.1:c.65174T>C (TTN) | NP_001243779.1:p.Val21725Ala | |
| NM_001267550.2:c.70097T>C (TTN) MANE Select | NP_001254479.2:p.Val23366Ala | |
| NM_003319.4:c.42902T>C (TTN) | NP_003310.4:p.Val14301Ala | |
| NM_133378.4:c.62393T>C (TTN) | NP_596869.4:p.Val20798Ala | |
| NM_133432.3:c.43277T>C (TTN) | NP_597676.3:p.Val14426Ala | |
| NM_133437.4:c.43478T>C (TTN) | NP_597681.4:p.Val14493Ala | |
| NR_038271.1:n.596+4586A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-6537A>G (TTN-AS1) | ||
| XM_011511729.1:c.69194T>C (TTN) | XP_011510031.1:p.Val23065Ala | |
| XM_011511730.1:c.43088T>C (TTN) | XP_011510032.1:p.Val14363Ala | |
| XM_011511731.1:c.42947T>C (TTN) | XP_011510033.1:p.Val14316Ala | |
| XM_017004819.1:c.68990T>C (TTN) | XP_016860308.1:p.Val22997Ala | |
| XM_017004820.1:c.64388T>C (TTN) | XP_016860309.1:p.Val21463Ala | |
| XM_017004821.1:c.64385T>C (TTN) | XP_016860310.1:p.Val21462Ala | |
| XM_017004822.1:c.61427T>C (TTN) | XP_016860311.1:p.Val20476Ala | |
| XM_017004823.1:c.43043T>C (TTN) | XP_016860312.1:p.Val14348Ala | |
| XM_024453094.1:c.64538T>C (TTN) | XP_024308862.1:p.Val21513Ala | |
| XM_024453095.1:c.64535T>C (TTN) | XP_024308863.1:p.Val21512Ala | |
| XM_024453096.1:c.63968T>C (TTN) | XP_024308864.1:p.Val21323Ala | |
| XM_024453097.1:c.61310T>C (TTN) | XP_024308865.1:p.Val20437Ala | |
| XM_024453098.1:c.61229T>C (TTN) | XP_024308866.1:p.Val20410Ala | |
| XM_024453099.1:c.42992T>C (TTN) | XP_024308867.1:p.Val14331Ala | |
| XM_024453100.1:c.32846T>C (TTN) | XP_024308868.1:p.Val10949Ala |