Linked Data
ClinVar Variation Id:
178190
dbSNP Id:
rs368530092
ExAC:
2:179436528 G / A
gnomAD v2:
2-179436528-G-A
gnomAD v3:
2-178571801-G-A
gnomAD v4:
2-178571801-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571801G>A , CM000664.2:g.178571801G>A | GRCh38 |
| NC_000002.11:g.179436528G>A , CM000664.1:g.179436528G>A | GRCh37 |
| NC_000002.10:g.179144774G>A | NCBI36 |
| NG_011618.3:g.264002C>T , LRG_391:g.264002C>T | |
| NG_051363.1:g.53975G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66627C>T (TTN) | ENSP00000343764.6:p.Asp22209= | |
| ENST00000342175.11:c.47712C>T (TTN) | ENSP00000340554.6:p.Asp15904= | |
| ENST00000359218.10:c.47511C>T (TTN) | ENSP00000352154.5:p.Asp15837= | |
| ENST00000342175.10:c.47712C>T (TTN) | ENSP00000340554.6:p.Asp15904= | |
| ENST00000342992.10:c.66627C>T (TTN) | ENSP00000343764.6:p.Asp22209= | |
| ENST00000359218.9:c.47511C>T (TTN) | ENSP00000352154.5:p.Asp15837= | |
| ENST00000460472.6:c.47136C>T (TTN) | ENSP00000434586.1:p.Asp15712= | |
| ENST00000589042.5:c.74331C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp24777= | |
| ENST00000591111.5:c.69408C>T (TTN) | ENSP00000465570.1:p.Asp23136= | |
| ENST00000615779.4:c.69408C>T (TTN) | ENSP00000483597.1:p.Asp23136= | |
| NM_001256850.1:c.69408C>T (TTN) | NP_001243779.1:p.Asp23136= | |
| NM_001267550.2:c.74331C>T (TTN) MANE Select | NP_001254479.2:p.Asp24777= | |
| NM_003319.4:c.47136C>T (TTN) | NP_003310.4:p.Asp15712= | |
| NM_133378.4:c.66627C>T (TTN) | NP_596869.4:p.Asp22209= | |
| NM_133432.3:c.47511C>T (TTN) | NP_597676.3:p.Asp15837= | |
| NM_133437.4:c.47712C>T (TTN) | NP_597681.4:p.Asp15904= | |
| NR_038271.1:n.596+352G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-10771G>A (TTN-AS1) | ||
| XM_011511729.1:c.73428C>T (TTN) | XP_011510031.1:p.Asp24476= | |
| XM_011511730.1:c.47322C>T (TTN) | XP_011510032.1:p.Asp15774= | |
| XM_011511731.1:c.47181C>T (TTN) | XP_011510033.1:p.Asp15727= | |
| XM_017004819.1:c.73224C>T (TTN) | XP_016860308.1:p.Asp24408= | |
| XM_017004820.1:c.68622C>T (TTN) | XP_016860309.1:p.Asp22874= | |
| XM_017004821.1:c.68619C>T (TTN) | XP_016860310.1:p.Asp22873= | |
| XM_017004822.1:c.65661C>T (TTN) | XP_016860311.1:p.Asp21887= | |
| XM_017004823.1:c.47277C>T (TTN) | XP_016860312.1:p.Asp15759= | |
| XM_024453094.1:c.68772C>T (TTN) | XP_024308862.1:p.Asp22924= | |
| XM_024453095.1:c.68769C>T (TTN) | XP_024308863.1:p.Asp22923= | |
| XM_024453096.1:c.68202C>T (TTN) | XP_024308864.1:p.Asp22734= | |
| XM_024453097.1:c.65544C>T (TTN) | XP_024308865.1:p.Asp21848= | |
| XM_024453098.1:c.65463C>T (TTN) | XP_024308866.1:p.Asp21821= | |
| XM_024453099.1:c.47226C>T (TTN) | XP_024308867.1:p.Asp15742= | |
| XM_024453100.1:c.37080C>T (TTN) | XP_024308868.1:p.Asp12360= |