Linked Data
ClinVar Variation Id:
332683
ClinVar RCV Id:
RCV000290412
RCV000313097
RCV000347759
RCV000396451
RCV000396464
RCV000533314
RCV001558153
dbSNP Id:
rs148865574
ExAC:
2:179395322 A / G
gnomAD v2:
2-179395322-A-G
gnomAD v3:
2-178530595-A-G
gnomAD v4:
2-178530595-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530595A>G , CM000664.2:g.178530595A>G | GRCh38 |
| NC_000002.11:g.179395322A>G , CM000664.1:g.179395322A>G | GRCh37 |
| NC_000002.10:g.179103568A>G | NCBI36 |
| NG_011618.3:g.305208T>C , LRG_391:g.305208T>C | |
| NG_051363.1:g.12769A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98316T>C (TTN) | ENSP00000343764.6:p.Gly32772= | |
| ENST00000342175.11:c.79401T>C (TTN) | ENSP00000340554.6:p.Gly26467= | |
| ENST00000359218.10:c.79200T>C (TTN) | ENSP00000352154.5:p.Gly26400= | |
| ENST00000342175.10:c.79401T>C (TTN) | ENSP00000340554.6:p.Gly26467= | |
| ENST00000342992.10:c.98316T>C (TTN) | ENSP00000343764.6:p.Gly32772= | |
| ENST00000359218.9:c.79200T>C (TTN) | ENSP00000352154.5:p.Gly26400= | |
| ENST00000460472.6:c.78825T>C (TTN) | ENSP00000434586.1:p.Gly26275= | |
| ENST00000589042.5:c.106020T>C (TTN) MANE Select | ENSP00000467141.1:p.Gly35340= | |
| ENST00000591111.5:c.101097T>C (TTN) | ENSP00000465570.1:p.Gly33699= | |
| ENST00000615779.4:c.101097T>C (TTN) | ENSP00000483597.1:p.Gly33699= | |
| NM_001256850.1:c.101097T>C (TTN) | NP_001243779.1:p.Gly33699= | |
| NM_001267550.2:c.106020T>C (TTN) MANE Select | NP_001254479.2:p.Gly35340= | |
| NM_003319.4:c.78825T>C (TTN) | NP_003310.4:p.Gly26275= | |
| NM_133378.4:c.98316T>C (TTN) | NP_596869.4:p.Gly32772= | |
| NM_133432.3:c.79200T>C (TTN) | NP_597676.3:p.Gly26400= | |
| NM_133437.4:c.79401T>C (TTN) | NP_597681.4:p.Gly26467= | |
| NR_038271.1:n.446+6959A>G (TTN-AS1) | ||
| NR_038272.1:n.220-5137A>G (TTN-AS1) | ||
| XM_011511729.1:c.105117T>C (TTN) | XP_011510031.1:p.Gly35039= | |
| XM_011511730.1:c.79011T>C (TTN) | XP_011510032.1:p.Gly26337= | |
| XM_011511731.1:c.78870T>C (TTN) | XP_011510033.1:p.Gly26290= | |
| XM_017004819.1:c.104913T>C (TTN) | XP_016860308.1:p.Gly34971= | |
| XM_017004820.1:c.100311T>C (TTN) | XP_016860309.1:p.Gly33437= | |
| XM_017004821.1:c.100308T>C (TTN) | XP_016860310.1:p.Gly33436= | |
| XM_017004822.1:c.97350T>C (TTN) | XP_016860311.1:p.Gly32450= | |
| XM_017004823.1:c.78966T>C (TTN) | XP_016860312.1:p.Gly26322= | |
| XM_024453094.1:c.100461T>C (TTN) | XP_024308862.1:p.Gly33487= | |
| XM_024453095.1:c.100458T>C (TTN) | XP_024308863.1:p.Gly33486= | |
| XM_024453096.1:c.99891T>C (TTN) | XP_024308864.1:p.Gly33297= | |
| XM_024453097.1:c.97233T>C (TTN) | XP_024308865.1:p.Gly32411= | |
| XM_024453098.1:c.97152T>C (TTN) | XP_024308866.1:p.Gly32384= | |
| XM_024453099.1:c.78915T>C (TTN) | XP_024308867.1:p.Gly26305= | |
| XM_024453100.1:c.68769T>C (TTN) | XP_024308868.1:p.Gly22923= |