Linked Data
ClinVar Variation Id:
535366
dbSNP Id:
rs188323108
ExAC:
2:179427587 A / G
gnomAD v2:
2-179427587-A-G
gnomAD v3:
2-178562860-A-G
gnomAD v4:
2-178562860-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562860A>G , CM000664.2:g.178562860A>G | GRCh38 |
| NC_000002.11:g.179427587A>G , CM000664.1:g.179427587A>G | GRCh37 |
| NC_000002.10:g.179135833A>G | NCBI36 |
| NG_011618.3:g.272943T>C , LRG_391:g.272943T>C | |
| NG_051363.1:g.45034A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75568T>C (TTN) | ENSP00000343764.6:p.Phe25190Leu | |
| ENST00000342175.11:c.56653T>C (TTN) | ENSP00000340554.6:p.Phe18885Leu | |
| ENST00000359218.10:c.56452T>C (TTN) | ENSP00000352154.5:p.Phe18818Leu | |
| ENST00000342175.10:c.56653T>C (TTN) | ENSP00000340554.6:p.Phe18885Leu | |
| ENST00000342992.10:c.75568T>C (TTN) | ENSP00000343764.6:p.Phe25190Leu | |
| ENST00000359218.9:c.56452T>C (TTN) | ENSP00000352154.5:p.Phe18818Leu | |
| ENST00000460472.6:c.56077T>C (TTN) | ENSP00000434586.1:p.Phe18693Leu | |
| ENST00000589042.5:c.83272T>C (TTN) MANE Select | ENSP00000467141.1:p.Phe27758Leu | |
| ENST00000591111.5:c.78349T>C (TTN) | ENSP00000465570.1:p.Phe26117Leu | |
| ENST00000615779.4:c.78349T>C (TTN) | ENSP00000483597.1:p.Phe26117Leu | |
| NM_001256850.1:c.78349T>C (TTN) | NP_001243779.1:p.Phe26117Leu | |
| NM_001267550.2:c.83272T>C (TTN) MANE Select | NP_001254479.2:p.Phe27758Leu | |
| NM_003319.4:c.56077T>C (TTN) | NP_003310.4:p.Phe18693Leu | |
| NM_133378.4:c.75568T>C (TTN) | NP_596869.4:p.Phe25190Leu | |
| NM_133432.3:c.56452T>C (TTN) | NP_597676.3:p.Phe18818Leu | |
| NM_133437.4:c.56653T>C (TTN) | NP_597681.4:p.Phe18885Leu | |
| NR_038271.1:n.447-8440A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-19712A>G (TTN-AS1) | ||
| XM_011511729.1:c.82369T>C (TTN) | XP_011510031.1:p.Phe27457Leu | |
| XM_011511730.1:c.56263T>C (TTN) | XP_011510032.1:p.Phe18755Leu | |
| XM_011511731.1:c.56122T>C (TTN) | XP_011510033.1:p.Phe18708Leu | |
| XM_017004819.1:c.82165T>C (TTN) | XP_016860308.1:p.Phe27389Leu | |
| XM_017004820.1:c.77563T>C (TTN) | XP_016860309.1:p.Phe25855Leu | |
| XM_017004821.1:c.77560T>C (TTN) | XP_016860310.1:p.Phe25854Leu | |
| XM_017004822.1:c.74602T>C (TTN) | XP_016860311.1:p.Phe24868Leu | |
| XM_017004823.1:c.56218T>C (TTN) | XP_016860312.1:p.Phe18740Leu | |
| XM_024453094.1:c.77713T>C (TTN) | XP_024308862.1:p.Phe25905Leu | |
| XM_024453095.1:c.77710T>C (TTN) | XP_024308863.1:p.Phe25904Leu | |
| XM_024453096.1:c.77143T>C (TTN) | XP_024308864.1:p.Phe25715Leu | |
| XM_024453097.1:c.74485T>C (TTN) | XP_024308865.1:p.Phe24829Leu | |
| XM_024453098.1:c.74404T>C (TTN) | XP_024308866.1:p.Phe24802Leu | |
| XM_024453099.1:c.56167T>C (TTN) | XP_024308867.1:p.Phe18723Leu | |
| XM_024453100.1:c.46021T>C (TTN) | XP_024308868.1:p.Phe15341Leu |