Linked Data
ClinVar Variation Id:
191843
ClinVar RCV Id:
RCV000172184
dbSNP Id:
rs201349962
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178544107C>G , CM000664.2:g.178544107C>G | GRCh38 |
| NC_000002.11:g.179408834C>G , CM000664.1:g.179408834C>G | GRCh37 |
| NC_000002.10:g.179117080C>G | NCBI36 |
| NG_011618.3:g.291696G>C , LRG_391:g.291696G>C | |
| NG_051363.1:g.26281C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88333G>C (TTN) | ENSP00000343764.6:p.Asp29445His | |
| ENST00000342175.11:c.69418G>C (TTN) | ENSP00000340554.6:p.Asp23140His | |
| ENST00000359218.10:c.69217G>C (TTN) | ENSP00000352154.5:p.Asp23073His | |
| ENST00000342175.10:c.69418G>C (TTN) | ENSP00000340554.6:p.Asp23140His | |
| ENST00000342992.10:c.88333G>C (TTN) | ENSP00000343764.6:p.Asp29445His | |
| ENST00000359218.9:c.69217G>C (TTN) | ENSP00000352154.5:p.Asp23073His | |
| ENST00000460472.6:c.68842G>C (TTN) | ENSP00000434586.1:p.Asp22948His | |
| ENST00000589042.5:c.96037G>C (TTN) MANE Select | ENSP00000467141.1:p.Asp32013His | |
| ENST00000591111.5:c.91114G>C (TTN) | ENSP00000465570.1:p.Asp30372His | |
| ENST00000615779.4:c.91114G>C (TTN) | ENSP00000483597.1:p.Asp30372His | |
| NM_001256850.1:c.91114G>C (TTN) | NP_001243779.1:p.Asp30372His | |
| NM_001267550.2:c.96037G>C (TTN) MANE Select | NP_001254479.2:p.Asp32013His | |
| NM_003319.4:c.68842G>C (TTN) | NP_003310.4:p.Asp22948His | |
| NM_133378.4:c.88333G>C (TTN) | NP_596869.4:p.Asp29445His | |
| NM_133432.3:c.69217G>C (TTN) | NP_597676.3:p.Asp23073His | |
| NM_133437.4:c.69418G>C (TTN) | NP_597681.4:p.Asp23140His | |
| NR_038271.1:n.446+20471C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+1746C>G (TTN-AS1) | ||
| XM_011511729.1:c.95134G>C (TTN) | XP_011510031.1:p.Asp31712His | |
| XM_011511730.1:c.69028G>C (TTN) | XP_011510032.1:p.Asp23010His | |
| XM_011511731.1:c.68887G>C (TTN) | XP_011510033.1:p.Asp22963His | |
| XM_017004819.1:c.94930G>C (TTN) | XP_016860308.1:p.Asp31644His | |
| XM_017004820.1:c.90328G>C (TTN) | XP_016860309.1:p.Asp30110His | |
| XM_017004821.1:c.90325G>C (TTN) | XP_016860310.1:p.Asp30109His | |
| XM_017004822.1:c.87367G>C (TTN) | XP_016860311.1:p.Asp29123His | |
| XM_017004823.1:c.68983G>C (TTN) | XP_016860312.1:p.Asp22995His | |
| XM_024453094.1:c.90478G>C (TTN) | XP_024308862.1:p.Asp30160His | |
| XM_024453095.1:c.90475G>C (TTN) | XP_024308863.1:p.Asp30159His | |
| XM_024453096.1:c.89908G>C (TTN) | XP_024308864.1:p.Asp29970His | |
| XM_024453097.1:c.87250G>C (TTN) | XP_024308865.1:p.Asp29084His | |
| XM_024453098.1:c.87169G>C (TTN) | XP_024308866.1:p.Asp29057His | |
| XM_024453099.1:c.68932G>C (TTN) | XP_024308867.1:p.Asp22978His | |
| XM_024453100.1:c.58786G>C (TTN) | XP_024308868.1:p.Asp19596His |