Linked Data
ClinVar Variation Id:
509259
dbSNP Id:
rs961119478
gnomAD v3:
2-178530472-A-G
gnomAD v4:
2-178530472-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530472A>G , CM000664.2:g.178530472A>G | GRCh38 |
| NC_000002.11:g.179395199A>G , CM000664.1:g.179395199A>G | GRCh37 |
| NC_000002.10:g.179103445A>G | NCBI36 |
| NG_011618.3:g.305331T>C , LRG_391:g.305331T>C | |
| NG_051363.1:g.12646A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98439T>C (TTN) | ENSP00000343764.6:p.Ser32813= | |
| ENST00000342175.11:c.79524T>C (TTN) | ENSP00000340554.6:p.Ser26508= | |
| ENST00000359218.10:c.79323T>C (TTN) | ENSP00000352154.5:p.Ser26441= | |
| ENST00000342175.10:c.79524T>C (TTN) | ENSP00000340554.6:p.Ser26508= | |
| ENST00000342992.10:c.98439T>C (TTN) | ENSP00000343764.6:p.Ser32813= | |
| ENST00000359218.9:c.79323T>C (TTN) | ENSP00000352154.5:p.Ser26441= | |
| ENST00000460472.6:c.78948T>C (TTN) | ENSP00000434586.1:p.Ser26316= | |
| ENST00000589042.5:c.106143T>C (TTN) MANE Select | ENSP00000467141.1:p.Ser35381= | |
| ENST00000591111.5:c.101220T>C (TTN) | ENSP00000465570.1:p.Ser33740= | |
| ENST00000615779.4:c.101220T>C (TTN) | ENSP00000483597.1:p.Ser33740= | |
| NM_001256850.1:c.101220T>C (TTN) | NP_001243779.1:p.Ser33740= | |
| NM_001267550.2:c.106143T>C (TTN) MANE Select | NP_001254479.2:p.Ser35381= | |
| NM_003319.4:c.78948T>C (TTN) | NP_003310.4:p.Ser26316= | |
| NM_133378.4:c.98439T>C (TTN) | NP_596869.4:p.Ser32813= | |
| NM_133432.3:c.79323T>C (TTN) | NP_597676.3:p.Ser26441= | |
| NM_133437.4:c.79524T>C (TTN) | NP_597681.4:p.Ser26508= | |
| NR_038271.1:n.446+6836A>G (TTN-AS1) | ||
| NR_038272.1:n.220-5260A>G (TTN-AS1) | ||
| XM_011511729.1:c.105240T>C (TTN) | XP_011510031.1:p.Ser35080= | |
| XM_011511730.1:c.79134T>C (TTN) | XP_011510032.1:p.Ser26378= | |
| XM_011511731.1:c.78993T>C (TTN) | XP_011510033.1:p.Ser26331= | |
| XM_017004819.1:c.105036T>C (TTN) | XP_016860308.1:p.Ser35012= | |
| XM_017004820.1:c.100434T>C (TTN) | XP_016860309.1:p.Ser33478= | |
| XM_017004821.1:c.100431T>C (TTN) | XP_016860310.1:p.Ser33477= | |
| XM_017004822.1:c.97473T>C (TTN) | XP_016860311.1:p.Ser32491= | |
| XM_017004823.1:c.79089T>C (TTN) | XP_016860312.1:p.Ser26363= | |
| XM_024453094.1:c.100584T>C (TTN) | XP_024308862.1:p.Ser33528= | |
| XM_024453095.1:c.100581T>C (TTN) | XP_024308863.1:p.Ser33527= | |
| XM_024453096.1:c.100014T>C (TTN) | XP_024308864.1:p.Ser33338= | |
| XM_024453097.1:c.97356T>C (TTN) | XP_024308865.1:p.Ser32452= | |
| XM_024453098.1:c.97275T>C (TTN) | XP_024308866.1:p.Ser32425= | |
| XM_024453099.1:c.79038T>C (TTN) | XP_024308867.1:p.Ser26346= | |
| XM_024453100.1:c.68892T>C (TTN) | XP_024308868.1:p.Ser22964= |