Linked Data
ClinVar Variation Id:
178836
dbSNP Id:
rs727504479
ExAC:
2:179455353 G / A
gnomAD v2:
2-179455353-G-A
gnomAD v3:
2-178590626-G-A
gnomAD v4:
2-178590626-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590626G>A , CM000664.2:g.178590626G>A | GRCh38 |
| NC_000002.11:g.179455353G>A , CM000664.1:g.179455353G>A | GRCh37 |
| NC_000002.10:g.179163599G>A | NCBI36 |
| NG_011618.3:g.245177C>T , LRG_391:g.245177C>T | |
| NG_051363.1:g.72800G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53395C>T (TTN) | ENSP00000343764.6:p.Arg17799Trp | |
| ENST00000342175.11:c.34480C>T (TTN) | ENSP00000340554.6:p.Arg11494Trp | |
| ENST00000359218.10:c.34279C>T (TTN) | ENSP00000352154.5:p.Arg11427Trp | |
| ENST00000342175.10:c.34480C>T (TTN) | ENSP00000340554.6:p.Arg11494Trp | |
| ENST00000342992.10:c.53395C>T (TTN) | ENSP00000343764.6:p.Arg17799Trp | |
| ENST00000359218.9:c.34279C>T (TTN) | ENSP00000352154.5:p.Arg11427Trp | |
| ENST00000460472.6:c.33904C>T (TTN) | ENSP00000434586.1:p.Arg11302Trp | |
| ENST00000589042.5:c.61099C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg20367Trp | |
| ENST00000591111.5:c.56176C>T (TTN) | ENSP00000465570.1:p.Arg18726Trp | |
| ENST00000615779.4:c.56176C>T (TTN) | ENSP00000483597.1:p.Arg18726Trp | |
| NM_001256850.1:c.56176C>T (TTN) | NP_001243779.1:p.Arg18726Trp | |
| NM_001267550.2:c.61099C>T (TTN) MANE Select | NP_001254479.2:p.Arg20367Trp | |
| NM_003319.4:c.33904C>T (TTN) | NP_003310.4:p.Arg11302Trp | |
| NM_133378.4:c.53395C>T (TTN) | NP_596869.4:p.Arg17799Trp | |
| NM_133432.3:c.34279C>T (TTN) | NP_597676.3:p.Arg11427Trp | |
| NM_133437.4:c.34480C>T (TTN) | NP_597681.4:p.Arg11494Trp | |
| NR_038271.1:n.597-6970G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-513G>A (TTN-AS1) | ||
| XM_011511729.1:c.60196C>T (TTN) | XP_011510031.1:p.Arg20066Trp | |
| XM_011511730.1:c.34090C>T (TTN) | XP_011510032.1:p.Arg11364Trp | |
| XM_011511731.1:c.33949C>T (TTN) | XP_011510033.1:p.Arg11317Trp | |
| XM_017004819.1:c.59992C>T (TTN) | XP_016860308.1:p.Arg19998Trp | |
| XM_017004820.1:c.55390C>T (TTN) | XP_016860309.1:p.Arg18464Trp | |
| XM_017004821.1:c.55387C>T (TTN) | XP_016860310.1:p.Arg18463Trp | |
| XM_017004822.1:c.52429C>T (TTN) | XP_016860311.1:p.Arg17477Trp | |
| XM_017004823.1:c.34045C>T (TTN) | XP_016860312.1:p.Arg11349Trp | |
| XM_024453094.1:c.55540C>T (TTN) | XP_024308862.1:p.Arg18514Trp | |
| XM_024453095.1:c.55537C>T (TTN) | XP_024308863.1:p.Arg18513Trp | |
| XM_024453096.1:c.54970C>T (TTN) | XP_024308864.1:p.Arg18324Trp | |
| XM_024453097.1:c.52312C>T (TTN) | XP_024308865.1:p.Arg17438Trp | |
| XM_024453098.1:c.52231C>T (TTN) | XP_024308866.1:p.Arg17411Trp | |
| XM_024453099.1:c.33994C>T (TTN) | XP_024308867.1:p.Arg11332Trp | |
| XM_024453100.1:c.23848C>T (TTN) | XP_024308868.1:p.Arg7950Trp |