Linked Data
ClinVar Variation Id:
165717
dbSNP Id:
rs727503545
ExAC:
2:179411491 C / T
gnomAD v2:
2-179411491-C-T
gnomAD v3:
2-178546764-C-T
gnomAD v4:
2-178546764-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546764C>T , CM000664.2:g.178546764C>T | GRCh38 |
| NC_000002.11:g.179411491C>T , CM000664.1:g.179411491C>T | GRCh37 |
| NC_000002.10:g.179119737C>T | NCBI36 |
| NG_011618.3:g.289039G>A , LRG_391:g.289039G>A | |
| NG_051363.1:g.28938C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86960G>A (TTN) | ENSP00000343764.6:p.Arg28987His | |
| ENST00000342175.11:c.68045G>A (TTN) | ENSP00000340554.6:p.Arg22682His | |
| ENST00000359218.10:c.67844G>A (TTN) | ENSP00000352154.5:p.Arg22615His | |
| ENST00000342175.10:c.68045G>A (TTN) | ENSP00000340554.6:p.Arg22682His | |
| ENST00000342992.10:c.86960G>A (TTN) | ENSP00000343764.6:p.Arg28987His | |
| ENST00000359218.9:c.67844G>A (TTN) | ENSP00000352154.5:p.Arg22615His | |
| ENST00000460472.6:c.67469G>A (TTN) | ENSP00000434586.1:p.Arg22490His | |
| ENST00000589042.5:c.94664G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg31555His | |
| ENST00000591111.5:c.89741G>A (TTN) | ENSP00000465570.1:p.Arg29914His | |
| ENST00000615779.4:c.89741G>A (TTN) | ENSP00000483597.1:p.Arg29914His | |
| NM_001256850.1:c.89741G>A (TTN) | NP_001243779.1:p.Arg29914His | |
| NM_001267550.2:c.94664G>A (TTN) MANE Select | NP_001254479.2:p.Arg31555His | |
| NM_003319.4:c.67469G>A (TTN) | NP_003310.4:p.Arg22490His | |
| NM_133378.4:c.86960G>A (TTN) | NP_596869.4:p.Arg28987His | |
| NM_133432.3:c.67844G>A (TTN) | NP_597676.3:p.Arg22615His | |
| NM_133437.4:c.68045G>A (TTN) | NP_597681.4:p.Arg22682His | |
| NR_038271.1:n.446+23128C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+4403C>T (TTN-AS1) | ||
| XM_011511729.1:c.93761G>A (TTN) | XP_011510031.1:p.Arg31254His | |
| XM_011511730.1:c.67655G>A (TTN) | XP_011510032.1:p.Arg22552His | |
| XM_011511731.1:c.67514G>A (TTN) | XP_011510033.1:p.Arg22505His | |
| XM_017004819.1:c.93557G>A (TTN) | XP_016860308.1:p.Arg31186His | |
| XM_017004820.1:c.88955G>A (TTN) | XP_016860309.1:p.Arg29652His | |
| XM_017004821.1:c.88952G>A (TTN) | XP_016860310.1:p.Arg29651His | |
| XM_017004822.1:c.85994G>A (TTN) | XP_016860311.1:p.Arg28665His | |
| XM_017004823.1:c.67610G>A (TTN) | XP_016860312.1:p.Arg22537His | |
| XM_024453094.1:c.89105G>A (TTN) | XP_024308862.1:p.Arg29702His | |
| XM_024453095.1:c.89102G>A (TTN) | XP_024308863.1:p.Arg29701His | |
| XM_024453096.1:c.88535G>A (TTN) | XP_024308864.1:p.Arg29512His | |
| XM_024453097.1:c.85877G>A (TTN) | XP_024308865.1:p.Arg28626His | |
| XM_024453098.1:c.85796G>A (TTN) | XP_024308866.1:p.Arg28599His | |
| XM_024453099.1:c.67559G>A (TTN) | XP_024308867.1:p.Arg22520His | |
| XM_024453100.1:c.57413G>A (TTN) | XP_024308868.1:p.Arg19138His |