Linked Data
ClinVar Variation Id:
497178
dbSNP Id:
rs377190399
ExAC:
2:179400305 C / T
gnomAD v2:
2-179400305-C-T
gnomAD v3:
2-178535578-C-T
gnomAD v4:
2-178535578-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535578C>T , CM000664.2:g.178535578C>T | GRCh38 |
| NC_000002.11:g.179400305C>T , CM000664.1:g.179400305C>T | GRCh37 |
| NC_000002.10:g.179108551C>T | NCBI36 |
| NG_011618.3:g.300225G>A , LRG_391:g.300225G>A | |
| NG_051363.1:g.17752C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.93333G>A (TTN) | ENSP00000343764.6:p.Gln31111= | |
| ENST00000342175.11:c.74418G>A (TTN) | ENSP00000340554.6:p.Gln24806= | |
| ENST00000359218.10:c.74217G>A (TTN) | ENSP00000352154.5:p.Gln24739= | |
| ENST00000342175.10:c.74418G>A (TTN) | ENSP00000340554.6:p.Gln24806= | |
| ENST00000342992.10:c.93333G>A (TTN) | ENSP00000343764.6:p.Gln31111= | |
| ENST00000359218.9:c.74217G>A (TTN) | ENSP00000352154.5:p.Gln24739= | |
| ENST00000460472.6:c.73842G>A (TTN) | ENSP00000434586.1:p.Gln24614= | |
| ENST00000589042.5:c.101037G>A (TTN) MANE Select | ENSP00000467141.1:p.Gln33679= | |
| ENST00000591111.5:c.96114G>A (TTN) | ENSP00000465570.1:p.Gln32038= | |
| ENST00000615779.4:c.96114G>A (TTN) | ENSP00000483597.1:p.Gln32038= | |
| NM_001256850.1:c.96114G>A (TTN) | NP_001243779.1:p.Gln32038= | |
| NM_001267550.2:c.101037G>A (TTN) MANE Select | NP_001254479.2:p.Gln33679= | |
| NM_003319.4:c.73842G>A (TTN) | NP_003310.4:p.Gln24614= | |
| NM_133378.4:c.93333G>A (TTN) | NP_596869.4:p.Gln31111= | |
| NM_133432.3:c.74217G>A (TTN) | NP_597676.3:p.Gln24739= | |
| NM_133437.4:c.74418G>A (TTN) | NP_597681.4:p.Gln24806= | |
| NR_038271.1:n.446+11942C>T (TTN-AS1) | ||
| NR_038272.1:n.220-154C>T (TTN-AS1) | ||
| XM_011511729.1:c.100134G>A (TTN) | XP_011510031.1:p.Gln33378= | |
| XM_011511730.1:c.74028G>A (TTN) | XP_011510032.1:p.Gln24676= | |
| XM_011511731.1:c.73887G>A (TTN) | XP_011510033.1:p.Gln24629= | |
| XM_017004819.1:c.99930G>A (TTN) | XP_016860308.1:p.Gln33310= | |
| XM_017004820.1:c.95328G>A (TTN) | XP_016860309.1:p.Gln31776= | |
| XM_017004821.1:c.95325G>A (TTN) | XP_016860310.1:p.Gln31775= | |
| XM_017004822.1:c.92367G>A (TTN) | XP_016860311.1:p.Gln30789= | |
| XM_017004823.1:c.73983G>A (TTN) | XP_016860312.1:p.Gln24661= | |
| XM_024453094.1:c.95478G>A (TTN) | XP_024308862.1:p.Gln31826= | |
| XM_024453095.1:c.95475G>A (TTN) | XP_024308863.1:p.Gln31825= | |
| XM_024453096.1:c.94908G>A (TTN) | XP_024308864.1:p.Gln31636= | |
| XM_024453097.1:c.92250G>A (TTN) | XP_024308865.1:p.Gln30750= | |
| XM_024453098.1:c.92169G>A (TTN) | XP_024308866.1:p.Gln30723= | |
| XM_024453099.1:c.73932G>A (TTN) | XP_024308867.1:p.Gln24644= | |
| XM_024453100.1:c.63786G>A (TTN) | XP_024308868.1:p.Gln21262= |