Linked Data
ClinVar Variation Id:
132133
dbSNP Id:
rs869320740
gnomAD v2:
2-179410829-A-G
gnomAD v4:
2-178546102-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546102A>G , CM000664.2:g.178546102A>G | GRCh38 |
| NC_000002.11:g.179410829A>G , CM000664.1:g.179410829A>G | GRCh37 |
| NC_000002.10:g.179119075A>G | NCBI36 |
| NG_011618.3:g.289701T>C , LRG_391:g.289701T>C | |
| NG_051363.1:g.28276A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87430T>C (TTN) | ENSP00000343764.6:p.Cys29144Arg | |
| ENST00000342175.11:c.68515T>C (TTN) | ENSP00000340554.6:p.Cys22839Arg | |
| ENST00000359218.10:c.68314T>C (TTN) | ENSP00000352154.5:p.Cys22772Arg | |
| ENST00000342175.10:c.68515T>C (TTN) | ENSP00000340554.6:p.Cys22839Arg | |
| ENST00000342992.10:c.87430T>C (TTN) | ENSP00000343764.6:p.Cys29144Arg | |
| ENST00000359218.9:c.68314T>C (TTN) | ENSP00000352154.5:p.Cys22772Arg | |
| ENST00000460472.6:c.67939T>C (TTN) | ENSP00000434586.1:p.Cys22647Arg | |
| ENST00000589042.5:c.95134T>C (TTN) MANE Select | ENSP00000467141.1:p.Cys31712Arg | |
| ENST00000591111.5:c.90211T>C (TTN) | ENSP00000465570.1:p.Cys30071Arg | |
| ENST00000615779.4:c.90211T>C (TTN) | ENSP00000483597.1:p.Cys30071Arg | |
| NM_001256850.1:c.90211T>C (TTN) | NP_001243779.1:p.Cys30071Arg | |
| NM_001267550.2:c.95134T>C (TTN) MANE Select | NP_001254479.2:p.Cys31712Arg | |
| NM_003319.4:c.67939T>C (TTN) | NP_003310.4:p.Cys22647Arg | |
| NM_133378.4:c.87430T>C (TTN) | NP_596869.4:p.Cys29144Arg | |
| NM_133432.3:c.68314T>C (TTN) | NP_597676.3:p.Cys22772Arg | |
| NM_133437.4:c.68515T>C (TTN) | NP_597681.4:p.Cys22839Arg | |
| NR_038271.1:n.446+22466A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+3741A>G (TTN-AS1) | ||
| XM_011511729.1:c.94231T>C (TTN) | XP_011510031.1:p.Cys31411Arg | |
| XM_011511730.1:c.68125T>C (TTN) | XP_011510032.1:p.Cys22709Arg | |
| XM_011511731.1:c.67984T>C (TTN) | XP_011510033.1:p.Cys22662Arg | |
| XM_017004819.1:c.94027T>C (TTN) | XP_016860308.1:p.Cys31343Arg | |
| XM_017004820.1:c.89425T>C (TTN) | XP_016860309.1:p.Cys29809Arg | |
| XM_017004821.1:c.89422T>C (TTN) | XP_016860310.1:p.Cys29808Arg | |
| XM_017004822.1:c.86464T>C (TTN) | XP_016860311.1:p.Cys28822Arg | |
| XM_017004823.1:c.68080T>C (TTN) | XP_016860312.1:p.Cys22694Arg | |
| XM_024453094.1:c.89575T>C (TTN) | XP_024308862.1:p.Cys29859Arg | |
| XM_024453095.1:c.89572T>C (TTN) | XP_024308863.1:p.Cys29858Arg | |
| XM_024453096.1:c.89005T>C (TTN) | XP_024308864.1:p.Cys29669Arg | |
| XM_024453097.1:c.86347T>C (TTN) | XP_024308865.1:p.Cys28783Arg | |
| XM_024453098.1:c.86266T>C (TTN) | XP_024308866.1:p.Cys28756Arg | |
| XM_024453099.1:c.68029T>C (TTN) | XP_024308867.1:p.Cys22677Arg | |
| XM_024453100.1:c.57883T>C (TTN) | XP_024308868.1:p.Cys19295Arg |