Linked Data
ClinVar Variation Id:
518994
dbSNP Id:
rs376988498
ExAC:
2:179436796 C / T
gnomAD v2:
2-179436796-C-T
gnomAD v3:
2-178572069-C-T
gnomAD v4:
2-178572069-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572069C>T , CM000664.2:g.178572069C>T | GRCh38 |
| NC_000002.11:g.179436796C>T , CM000664.1:g.179436796C>T | GRCh37 |
| NC_000002.10:g.179145042C>T | NCBI36 |
| NG_011618.3:g.263734G>A , LRG_391:g.263734G>A | |
| NG_051363.1:g.54243C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66359G>A (TTN) | ENSP00000343764.6:p.Arg22120His | |
| ENST00000342175.11:c.47444G>A (TTN) | ENSP00000340554.6:p.Arg15815His | |
| ENST00000359218.10:c.47243G>A (TTN) | ENSP00000352154.5:p.Arg15748His | |
| ENST00000342175.10:c.47444G>A (TTN) | ENSP00000340554.6:p.Arg15815His | |
| ENST00000342992.10:c.66359G>A (TTN) | ENSP00000343764.6:p.Arg22120His | |
| ENST00000359218.9:c.47243G>A (TTN) | ENSP00000352154.5:p.Arg15748His | |
| ENST00000460472.6:c.46868G>A (TTN) | ENSP00000434586.1:p.Arg15623His | |
| ENST00000589042.5:c.74063G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg24688His | |
| ENST00000591111.5:c.69140G>A (TTN) | ENSP00000465570.1:p.Arg23047His | |
| ENST00000615779.4:c.69140G>A (TTN) | ENSP00000483597.1:p.Arg23047His | |
| NM_001256850.1:c.69140G>A (TTN) | NP_001243779.1:p.Arg23047His | |
| NM_001267550.2:c.74063G>A (TTN) MANE Select | NP_001254479.2:p.Arg24688His | |
| NM_003319.4:c.46868G>A (TTN) | NP_003310.4:p.Arg15623His | |
| NM_133378.4:c.66359G>A (TTN) | NP_596869.4:p.Arg22120His | |
| NM_133432.3:c.47243G>A (TTN) | NP_597676.3:p.Arg15748His | |
| NM_133437.4:c.47444G>A (TTN) | NP_597681.4:p.Arg15815His | |
| NR_038271.1:n.596+620C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-10503C>T (TTN-AS1) | ||
| XM_011511729.1:c.73160G>A (TTN) | XP_011510031.1:p.Arg24387His | |
| XM_011511730.1:c.47054G>A (TTN) | XP_011510032.1:p.Arg15685His | |
| XM_011511731.1:c.46913G>A (TTN) | XP_011510033.1:p.Arg15638His | |
| XM_017004819.1:c.72956G>A (TTN) | XP_016860308.1:p.Arg24319His | |
| XM_017004820.1:c.68354G>A (TTN) | XP_016860309.1:p.Arg22785His | |
| XM_017004821.1:c.68351G>A (TTN) | XP_016860310.1:p.Arg22784His | |
| XM_017004822.1:c.65393G>A (TTN) | XP_016860311.1:p.Arg21798His | |
| XM_017004823.1:c.47009G>A (TTN) | XP_016860312.1:p.Arg15670His | |
| XM_024453094.1:c.68504G>A (TTN) | XP_024308862.1:p.Arg22835His | |
| XM_024453095.1:c.68501G>A (TTN) | XP_024308863.1:p.Arg22834His | |
| XM_024453096.1:c.67934G>A (TTN) | XP_024308864.1:p.Arg22645His | |
| XM_024453097.1:c.65276G>A (TTN) | XP_024308865.1:p.Arg21759His | |
| XM_024453098.1:c.65195G>A (TTN) | XP_024308866.1:p.Arg21732His | |
| XM_024453099.1:c.46958G>A (TTN) | XP_024308867.1:p.Arg15653His | |
| XM_024453100.1:c.36812G>A (TTN) | XP_024308868.1:p.Arg12271His |