Linked Data
ClinVar Variation Id:
47396
dbSNP Id:
rs397517720
ExAC:
2:179429395 A / G
gnomAD v2:
2-179429395-A-G
gnomAD v3:
2-178564668-A-G
gnomAD v4:
2-178564668-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564668A>G , CM000664.2:g.178564668A>G | GRCh38 |
| NC_000002.11:g.179429395A>G , CM000664.1:g.179429395A>G | GRCh37 |
| NC_000002.10:g.179137641A>G | NCBI36 |
| NG_011618.3:g.271135T>C , LRG_391:g.271135T>C | |
| NG_051363.1:g.46842A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73760T>C (TTN) | ENSP00000343764.6:p.Ile24587Thr | |
| ENST00000342175.11:c.54845T>C (TTN) | ENSP00000340554.6:p.Ile18282Thr | |
| ENST00000359218.10:c.54644T>C (TTN) | ENSP00000352154.5:p.Ile18215Thr | |
| ENST00000342175.10:c.54845T>C (TTN) | ENSP00000340554.6:p.Ile18282Thr | |
| ENST00000342992.10:c.73760T>C (TTN) | ENSP00000343764.6:p.Ile24587Thr | |
| ENST00000359218.9:c.54644T>C (TTN) | ENSP00000352154.5:p.Ile18215Thr | |
| ENST00000460472.6:c.54269T>C (TTN) | ENSP00000434586.1:p.Ile18090Thr | |
| ENST00000589042.5:c.81464T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile27155Thr | |
| ENST00000591111.5:c.76541T>C (TTN) | ENSP00000465570.1:p.Ile25514Thr | |
| ENST00000615779.4:c.76541T>C (TTN) | ENSP00000483597.1:p.Ile25514Thr | |
| NM_001256850.1:c.76541T>C (TTN) | NP_001243779.1:p.Ile25514Thr | |
| NM_001267550.2:c.81464T>C (TTN) MANE Select | NP_001254479.2:p.Ile27155Thr | |
| NM_003319.4:c.54269T>C (TTN) | NP_003310.4:p.Ile18090Thr | |
| NM_133378.4:c.73760T>C (TTN) | NP_596869.4:p.Ile24587Thr | |
| NM_133432.3:c.54644T>C (TTN) | NP_597676.3:p.Ile18215Thr | |
| NM_133437.4:c.54845T>C (TTN) | NP_597681.4:p.Ile18282Thr | |
| NR_038271.1:n.447-6632A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-17904A>G (TTN-AS1) | ||
| XM_011511729.1:c.80561T>C (TTN) | XP_011510031.1:p.Ile26854Thr | |
| XM_011511730.1:c.54455T>C (TTN) | XP_011510032.1:p.Ile18152Thr | |
| XM_011511731.1:c.54314T>C (TTN) | XP_011510033.1:p.Ile18105Thr | |
| XM_017004819.1:c.80357T>C (TTN) | XP_016860308.1:p.Ile26786Thr | |
| XM_017004820.1:c.75755T>C (TTN) | XP_016860309.1:p.Ile25252Thr | |
| XM_017004821.1:c.75752T>C (TTN) | XP_016860310.1:p.Ile25251Thr | |
| XM_017004822.1:c.72794T>C (TTN) | XP_016860311.1:p.Ile24265Thr | |
| XM_017004823.1:c.54410T>C (TTN) | XP_016860312.1:p.Ile18137Thr | |
| XM_024453094.1:c.75905T>C (TTN) | XP_024308862.1:p.Ile25302Thr | |
| XM_024453095.1:c.75902T>C (TTN) | XP_024308863.1:p.Ile25301Thr | |
| XM_024453096.1:c.75335T>C (TTN) | XP_024308864.1:p.Ile25112Thr | |
| XM_024453097.1:c.72677T>C (TTN) | XP_024308865.1:p.Ile24226Thr | |
| XM_024453098.1:c.72596T>C (TTN) | XP_024308866.1:p.Ile24199Thr | |
| XM_024453099.1:c.54359T>C (TTN) | XP_024308867.1:p.Ile18120Thr | |
| XM_024453100.1:c.44213T>C (TTN) | XP_024308868.1:p.Ile14738Thr |