Linked Data
ClinVar Variation Id:
535327
dbSNP Id:
rs188395969
ExAC:
2:179475078 T / C
gnomAD v2:
2-179475078-T-C
gnomAD v3:
2-178610351-T-C
gnomAD v4:
2-178610351-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178610351T>C , CM000664.2:g.178610351T>C | GRCh38 |
| NC_000002.11:g.179475078T>C , CM000664.1:g.179475078T>C | GRCh37 |
| NC_000002.10:g.179183323T>C | NCBI36 |
| NG_011618.3:g.225452A>G , LRG_391:g.225452A>G | |
| NG_051363.1:g.92525T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43471A>G (TTN) | ENSP00000343764.6:p.Ile14491Val | |
| ENST00000342175.11:c.24556A>G (TTN) | ENSP00000340554.6:p.Ile8186Val | |
| ENST00000359218.10:c.24355A>G (TTN) | ENSP00000352154.5:p.Ile8119Val | |
| ENST00000342175.10:c.24556A>G (TTN) | ENSP00000340554.6:p.Ile8186Val | |
| ENST00000342992.10:c.43471A>G (TTN) | ENSP00000343764.6:p.Ile14491Val | |
| ENST00000359218.9:c.24355A>G (TTN) | ENSP00000352154.5:p.Ile8119Val | |
| ENST00000460472.6:c.23980A>G (TTN) | ENSP00000434586.1:p.Ile7994Val | |
| ENST00000589042.5:c.51175A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile17059Val | |
| ENST00000591111.5:c.46252A>G (TTN) | ENSP00000465570.1:p.Ile15418Val | |
| ENST00000615779.4:c.46252A>G (TTN) | ENSP00000483597.1:p.Ile15418Val | |
| NM_001256850.1:c.46252A>G (TTN) | NP_001243779.1:p.Ile15418Val | |
| NM_001267550.2:c.51175A>G (TTN) MANE Select | NP_001254479.2:p.Ile17059Val | |
| NM_003319.4:c.23980A>G (TTN) | NP_003310.4:p.Ile7994Val | |
| NM_133378.4:c.43471A>G (TTN) | NP_596869.4:p.Ile14491Val | |
| NM_133432.3:c.24355A>G (TTN) | NP_597676.3:p.Ile8119Val | |
| NM_133437.4:c.24556A>G (TTN) | NP_597681.4:p.Ile8186Val | |
| NR_038271.1:n.782+2085T>C (TTN-AS1) | ||
| XM_011511729.1:c.50272A>G (TTN) | XP_011510031.1:p.Ile16758Val | |
| XM_011511730.1:c.24166A>G (TTN) | XP_011510032.1:p.Ile8056Val | |
| XM_011511731.1:c.24025A>G (TTN) | XP_011510033.1:p.Ile8009Val | |
| XM_017004819.1:c.50068A>G (TTN) | XP_016860308.1:p.Ile16690Val | |
| XM_017004820.1:c.45466A>G (TTN) | XP_016860309.1:p.Ile15156Val | |
| XM_017004821.1:c.45463A>G (TTN) | XP_016860310.1:p.Ile15155Val | |
| XM_017004822.1:c.42505A>G (TTN) | XP_016860311.1:p.Ile14169Val | |
| XM_017004823.1:c.24121A>G (TTN) | XP_016860312.1:p.Ile8041Val | |
| XM_024453094.1:c.45616A>G (TTN) | XP_024308862.1:p.Ile15206Val | |
| XM_024453095.1:c.45613A>G (TTN) | XP_024308863.1:p.Ile15205Val | |
| XM_024453096.1:c.45046A>G (TTN) | XP_024308864.1:p.Ile15016Val | |
| XM_024453097.1:c.42388A>G (TTN) | XP_024308865.1:p.Ile14130Val | |
| XM_024453098.1:c.42307A>G (TTN) | XP_024308866.1:p.Ile14103Val | |
| XM_024453099.1:c.24070A>G (TTN) | XP_024308867.1:p.Ile8024Val | |
| XM_024453100.1:c.13924A>G (TTN) | XP_024308868.1:p.Ile4642Val |