Linked Data
ClinVar Variation Id:
512899
dbSNP Id:
rs911870330
gnomAD v3:
2-178587377-G-A
gnomAD v4:
2-178587377-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587377G>A , CM000664.2:g.178587377G>A | GRCh38 |
| NC_000002.11:g.179452104G>A , CM000664.1:g.179452104G>A | GRCh37 |
| NC_000002.10:g.179160350G>A | NCBI36 |
| NG_011618.3:g.248426C>T , LRG_391:g.248426C>T | |
| NG_051363.1:g.69551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56130C>T (TTN) | ENSP00000343764.6:p.Val18710= | |
| ENST00000342175.11:c.37215C>T (TTN) | ENSP00000340554.6:p.Val12405= | |
| ENST00000359218.10:c.37014C>T (TTN) | ENSP00000352154.5:p.Val12338= | |
| ENST00000342175.10:c.37215C>T (TTN) | ENSP00000340554.6:p.Val12405= | |
| ENST00000342992.10:c.56130C>T (TTN) | ENSP00000343764.6:p.Val18710= | |
| ENST00000359218.9:c.37014C>T (TTN) | ENSP00000352154.5:p.Val12338= | |
| ENST00000460472.6:c.36639C>T (TTN) | ENSP00000434586.1:p.Val12213= | |
| ENST00000589042.5:c.63834C>T (TTN) MANE Select | ENSP00000467141.1:p.Val21278= | |
| ENST00000591111.5:c.58911C>T (TTN) | ENSP00000465570.1:p.Val19637= | |
| ENST00000615779.4:c.58911C>T (TTN) | ENSP00000483597.1:p.Val19637= | |
| NM_001256850.1:c.58911C>T (TTN) | NP_001243779.1:p.Val19637= | |
| NM_001267550.2:c.63834C>T (TTN) MANE Select | NP_001254479.2:p.Val21278= | |
| NM_003319.4:c.36639C>T (TTN) | NP_003310.4:p.Val12213= | |
| NM_133378.4:c.56130C>T (TTN) | NP_596869.4:p.Val18710= | |
| NM_133432.3:c.37014C>T (TTN) | NP_597676.3:p.Val12338= | |
| NM_133437.4:c.37215C>T (TTN) | NP_597681.4:p.Val12405= | |
| NR_038271.1:n.597-10219G>A (TTN-AS1) | ||
| NR_038272.1:n.3188+2384G>A (TTN-AS1) | ||
| XM_011511729.1:c.62931C>T (TTN) | XP_011510031.1:p.Val20977= | |
| XM_011511730.1:c.36825C>T (TTN) | XP_011510032.1:p.Val12275= | |
| XM_011511731.1:c.36684C>T (TTN) | XP_011510033.1:p.Val12228= | |
| XM_017004819.1:c.62727C>T (TTN) | XP_016860308.1:p.Val20909= | |
| XM_017004820.1:c.58125C>T (TTN) | XP_016860309.1:p.Val19375= | |
| XM_017004821.1:c.58122C>T (TTN) | XP_016860310.1:p.Val19374= | |
| XM_017004822.1:c.55164C>T (TTN) | XP_016860311.1:p.Val18388= | |
| XM_017004823.1:c.36780C>T (TTN) | XP_016860312.1:p.Val12260= | |
| XM_024453094.1:c.58275C>T (TTN) | XP_024308862.1:p.Val19425= | |
| XM_024453095.1:c.58272C>T (TTN) | XP_024308863.1:p.Val19424= | |
| XM_024453096.1:c.57705C>T (TTN) | XP_024308864.1:p.Val19235= | |
| XM_024453097.1:c.55047C>T (TTN) | XP_024308865.1:p.Val18349= | |
| XM_024453098.1:c.54966C>T (TTN) | XP_024308866.1:p.Val18322= | |
| XM_024453099.1:c.36729C>T (TTN) | XP_024308867.1:p.Val12243= | |
| XM_024453100.1:c.26583C>T (TTN) | XP_024308868.1:p.Val8861= |