Linked Data
ClinVar Variation Id:
535456
dbSNP Id:
rs1296387134
gnomAD v2:
2-179399312-A-C
gnomAD v4:
2-178534585-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534585A>C , CM000664.2:g.178534585A>C | GRCh38 |
| NC_000002.11:g.179399312A>C , CM000664.1:g.179399312A>C | GRCh37 |
| NC_000002.10:g.179107558A>C | NCBI36 |
| NG_011618.3:g.301218T>G , LRG_391:g.301218T>G | |
| NG_051363.1:g.16759A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94326T>G (TTN) | ENSP00000343764.6:p.Ser31442Arg | |
| ENST00000342175.11:c.75411T>G (TTN) | ENSP00000340554.6:p.Ser25137Arg | |
| ENST00000359218.10:c.75210T>G (TTN) | ENSP00000352154.5:p.Ser25070Arg | |
| ENST00000342175.10:c.75411T>G (TTN) | ENSP00000340554.6:p.Ser25137Arg | |
| ENST00000342992.10:c.94326T>G (TTN) | ENSP00000343764.6:p.Ser31442Arg | |
| ENST00000359218.9:c.75210T>G (TTN) | ENSP00000352154.5:p.Ser25070Arg | |
| ENST00000460472.6:c.74835T>G (TTN) | ENSP00000434586.1:p.Ser24945Arg | |
| ENST00000589042.5:c.102030T>G (TTN) MANE Select | ENSP00000467141.1:p.Ser34010Arg | |
| ENST00000591111.5:c.97107T>G (TTN) | ENSP00000465570.1:p.Ser32369Arg | |
| ENST00000615779.4:c.97107T>G (TTN) | ENSP00000483597.1:p.Ser32369Arg | |
| NM_001256850.1:c.97107T>G (TTN) | NP_001243779.1:p.Ser32369Arg | |
| NM_001267550.2:c.102030T>G (TTN) MANE Select | NP_001254479.2:p.Ser34010Arg | |
| NM_003319.4:c.74835T>G (TTN) | NP_003310.4:p.Ser24945Arg | |
| NM_133378.4:c.94326T>G (TTN) | NP_596869.4:p.Ser31442Arg | |
| NM_133432.3:c.75210T>G (TTN) | NP_597676.3:p.Ser25070Arg | |
| NM_133437.4:c.75411T>G (TTN) | NP_597681.4:p.Ser25137Arg | |
| NR_038271.1:n.446+10949A>C (TTN-AS1) | ||
| NR_038272.1:n.220-1147A>C (TTN-AS1) | ||
| XM_011511729.1:c.101127T>G (TTN) | XP_011510031.1:p.Ser33709Arg | |
| XM_011511730.1:c.75021T>G (TTN) | XP_011510032.1:p.Ser25007Arg | |
| XM_011511731.1:c.74880T>G (TTN) | XP_011510033.1:p.Ser24960Arg | |
| XM_017004819.1:c.100923T>G (TTN) | XP_016860308.1:p.Ser33641Arg | |
| XM_017004820.1:c.96321T>G (TTN) | XP_016860309.1:p.Ser32107Arg | |
| XM_017004821.1:c.96318T>G (TTN) | XP_016860310.1:p.Ser32106Arg | |
| XM_017004822.1:c.93360T>G (TTN) | XP_016860311.1:p.Ser31120Arg | |
| XM_017004823.1:c.74976T>G (TTN) | XP_016860312.1:p.Ser24992Arg | |
| XM_024453094.1:c.96471T>G (TTN) | XP_024308862.1:p.Ser32157Arg | |
| XM_024453095.1:c.96468T>G (TTN) | XP_024308863.1:p.Ser32156Arg | |
| XM_024453096.1:c.95901T>G (TTN) | XP_024308864.1:p.Ser31967Arg | |
| XM_024453097.1:c.93243T>G (TTN) | XP_024308865.1:p.Ser31081Arg | |
| XM_024453098.1:c.93162T>G (TTN) | XP_024308866.1:p.Ser31054Arg | |
| XM_024453099.1:c.74925T>G (TTN) | XP_024308867.1:p.Ser24975Arg | |
| XM_024453100.1:c.64779T>G (TTN) | XP_024308868.1:p.Ser21593Arg |