Linked Data
ClinVar Variation Id:
519031
dbSNP Id:
rs368527797
ExAC:
2:179429050 A / G
gnomAD v2:
2-179429050-A-G
gnomAD v4:
2-178564323-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564323A>G , CM000664.2:g.178564323A>G | GRCh38 |
| NC_000002.11:g.179429050A>G , CM000664.1:g.179429050A>G | GRCh37 |
| NC_000002.10:g.179137296A>G | NCBI36 |
| NG_011618.3:g.271480T>C , LRG_391:g.271480T>C | |
| NG_051363.1:g.46497A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74105T>C (TTN) | ENSP00000343764.6:p.Ile24702Thr | |
| ENST00000342175.11:c.55190T>C (TTN) | ENSP00000340554.6:p.Ile18397Thr | |
| ENST00000359218.10:c.54989T>C (TTN) | ENSP00000352154.5:p.Ile18330Thr | |
| ENST00000342175.10:c.55190T>C (TTN) | ENSP00000340554.6:p.Ile18397Thr | |
| ENST00000342992.10:c.74105T>C (TTN) | ENSP00000343764.6:p.Ile24702Thr | |
| ENST00000359218.9:c.54989T>C (TTN) | ENSP00000352154.5:p.Ile18330Thr | |
| ENST00000460472.6:c.54614T>C (TTN) | ENSP00000434586.1:p.Ile18205Thr | |
| ENST00000589042.5:c.81809T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile27270Thr | |
| ENST00000591111.5:c.76886T>C (TTN) | ENSP00000465570.1:p.Ile25629Thr | |
| ENST00000615779.4:c.76886T>C (TTN) | ENSP00000483597.1:p.Ile25629Thr | |
| NM_001256850.1:c.76886T>C (TTN) | NP_001243779.1:p.Ile25629Thr | |
| NM_001267550.2:c.81809T>C (TTN) MANE Select | NP_001254479.2:p.Ile27270Thr | |
| NM_003319.4:c.54614T>C (TTN) | NP_003310.4:p.Ile18205Thr | |
| NM_133378.4:c.74105T>C (TTN) | NP_596869.4:p.Ile24702Thr | |
| NM_133432.3:c.54989T>C (TTN) | NP_597676.3:p.Ile18330Thr | |
| NM_133437.4:c.55190T>C (TTN) | NP_597681.4:p.Ile18397Thr | |
| NR_038271.1:n.447-6977A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-18249A>G (TTN-AS1) | ||
| XM_011511729.1:c.80906T>C (TTN) | XP_011510031.1:p.Ile26969Thr | |
| XM_011511730.1:c.54800T>C (TTN) | XP_011510032.1:p.Ile18267Thr | |
| XM_011511731.1:c.54659T>C (TTN) | XP_011510033.1:p.Ile18220Thr | |
| XM_017004819.1:c.80702T>C (TTN) | XP_016860308.1:p.Ile26901Thr | |
| XM_017004820.1:c.76100T>C (TTN) | XP_016860309.1:p.Ile25367Thr | |
| XM_017004821.1:c.76097T>C (TTN) | XP_016860310.1:p.Ile25366Thr | |
| XM_017004822.1:c.73139T>C (TTN) | XP_016860311.1:p.Ile24380Thr | |
| XM_017004823.1:c.54755T>C (TTN) | XP_016860312.1:p.Ile18252Thr | |
| XM_024453094.1:c.76250T>C (TTN) | XP_024308862.1:p.Ile25417Thr | |
| XM_024453095.1:c.76247T>C (TTN) | XP_024308863.1:p.Ile25416Thr | |
| XM_024453096.1:c.75680T>C (TTN) | XP_024308864.1:p.Ile25227Thr | |
| XM_024453097.1:c.73022T>C (TTN) | XP_024308865.1:p.Ile24341Thr | |
| XM_024453098.1:c.72941T>C (TTN) | XP_024308866.1:p.Ile24314Thr | |
| XM_024453099.1:c.54704T>C (TTN) | XP_024308867.1:p.Ile18235Thr | |
| XM_024453100.1:c.44558T>C (TTN) | XP_024308868.1:p.Ile14853Thr |