Linked Data
ClinVar Variation Id:
47398
dbSNP Id:
rs182126530
ExAC:
2:179429320 A / G
gnomAD v2:
2-179429320-A-G
gnomAD v3:
2-178564593-A-G
gnomAD v4:
2-178564593-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564593A>G , CM000664.2:g.178564593A>G | GRCh38 |
| NC_000002.11:g.179429320A>G , CM000664.1:g.179429320A>G | GRCh37 |
| NC_000002.10:g.179137566A>G | NCBI36 |
| NG_011618.3:g.271210T>C , LRG_391:g.271210T>C | |
| NG_051363.1:g.46767A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73835T>C (TTN) | ENSP00000343764.6:p.Ile24612Thr | |
| ENST00000342175.11:c.54920T>C (TTN) | ENSP00000340554.6:p.Ile18307Thr | |
| ENST00000359218.10:c.54719T>C (TTN) | ENSP00000352154.5:p.Ile18240Thr | |
| ENST00000342175.10:c.54920T>C (TTN) | ENSP00000340554.6:p.Ile18307Thr | |
| ENST00000342992.10:c.73835T>C (TTN) | ENSP00000343764.6:p.Ile24612Thr | |
| ENST00000359218.9:c.54719T>C (TTN) | ENSP00000352154.5:p.Ile18240Thr | |
| ENST00000460472.6:c.54344T>C (TTN) | ENSP00000434586.1:p.Ile18115Thr | |
| ENST00000589042.5:c.81539T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile27180Thr | |
| ENST00000591111.5:c.76616T>C (TTN) | ENSP00000465570.1:p.Ile25539Thr | |
| ENST00000615779.4:c.76616T>C (TTN) | ENSP00000483597.1:p.Ile25539Thr | |
| NM_001256850.1:c.76616T>C (TTN) | NP_001243779.1:p.Ile25539Thr | |
| NM_001267550.2:c.81539T>C (TTN) MANE Select | NP_001254479.2:p.Ile27180Thr | |
| NM_003319.4:c.54344T>C (TTN) | NP_003310.4:p.Ile18115Thr | |
| NM_133378.4:c.73835T>C (TTN) | NP_596869.4:p.Ile24612Thr | |
| NM_133432.3:c.54719T>C (TTN) | NP_597676.3:p.Ile18240Thr | |
| NM_133437.4:c.54920T>C (TTN) | NP_597681.4:p.Ile18307Thr | |
| NR_038271.1:n.447-6707A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-17979A>G (TTN-AS1) | ||
| XM_011511729.1:c.80636T>C (TTN) | XP_011510031.1:p.Ile26879Thr | |
| XM_011511730.1:c.54530T>C (TTN) | XP_011510032.1:p.Ile18177Thr | |
| XM_011511731.1:c.54389T>C (TTN) | XP_011510033.1:p.Ile18130Thr | |
| XM_017004819.1:c.80432T>C (TTN) | XP_016860308.1:p.Ile26811Thr | |
| XM_017004820.1:c.75830T>C (TTN) | XP_016860309.1:p.Ile25277Thr | |
| XM_017004821.1:c.75827T>C (TTN) | XP_016860310.1:p.Ile25276Thr | |
| XM_017004822.1:c.72869T>C (TTN) | XP_016860311.1:p.Ile24290Thr | |
| XM_017004823.1:c.54485T>C (TTN) | XP_016860312.1:p.Ile18162Thr | |
| XM_024453094.1:c.75980T>C (TTN) | XP_024308862.1:p.Ile25327Thr | |
| XM_024453095.1:c.75977T>C (TTN) | XP_024308863.1:p.Ile25326Thr | |
| XM_024453096.1:c.75410T>C (TTN) | XP_024308864.1:p.Ile25137Thr | |
| XM_024453097.1:c.72752T>C (TTN) | XP_024308865.1:p.Ile24251Thr | |
| XM_024453098.1:c.72671T>C (TTN) | XP_024308866.1:p.Ile24224Thr | |
| XM_024453099.1:c.54434T>C (TTN) | XP_024308867.1:p.Ile18145Thr | |
| XM_024453100.1:c.44288T>C (TTN) | XP_024308868.1:p.Ile14763Thr |