Linked Data
ClinVar Variation Id:
47525
ClinVar RCV Id:
RCV000040794
RCV000714120
RCV000768860
RCV000852788
RCV001082181
RCV001129729
RCV001132439
RCV001132436
RCV001132437
RCV001132438
RCV002362647
dbSNP Id:
rs77968867
ExAC:
2:179413816 A / G
gnomAD v2:
2-179413816-A-G
gnomAD v3:
2-178549089-A-G
gnomAD v4:
2-178549089-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549089A>G , CM000664.2:g.178549089A>G | GRCh38 |
| NC_000002.11:g.179413816A>G , CM000664.1:g.179413816A>G | GRCh37 |
| NC_000002.10:g.179122062A>G | NCBI36 |
| NG_011618.3:g.286714T>C , LRG_391:g.286714T>C | |
| NG_051363.1:g.31263A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84833T>C (TTN) | ENSP00000343764.6:p.Val28278Ala | |
| ENST00000342175.11:c.65918T>C (TTN) | ENSP00000340554.6:p.Val21973Ala | |
| ENST00000359218.10:c.65717T>C (TTN) | ENSP00000352154.5:p.Val21906Ala | |
| ENST00000342175.10:c.65918T>C (TTN) | ENSP00000340554.6:p.Val21973Ala | |
| ENST00000342992.10:c.84833T>C (TTN) | ENSP00000343764.6:p.Val28278Ala | |
| ENST00000359218.9:c.65717T>C (TTN) | ENSP00000352154.5:p.Val21906Ala | |
| ENST00000460472.6:c.65342T>C (TTN) | ENSP00000434586.1:p.Val21781Ala | |
| ENST00000589042.5:c.92537T>C (TTN) MANE Select | ENSP00000467141.1:p.Val30846Ala | |
| ENST00000591111.5:c.87614T>C (TTN) | ENSP00000465570.1:p.Val29205Ala | |
| ENST00000615779.4:c.87614T>C (TTN) | ENSP00000483597.1:p.Val29205Ala | |
| NM_001256850.1:c.87614T>C (TTN) | NP_001243779.1:p.Val29205Ala | |
| NM_001267550.2:c.92537T>C (TTN) MANE Select | NP_001254479.2:p.Val30846Ala | |
| NM_003319.4:c.65342T>C (TTN) | NP_003310.4:p.Val21781Ala | |
| NM_133378.4:c.84833T>C (TTN) | NP_596869.4:p.Val28278Ala | |
| NM_133432.3:c.65717T>C (TTN) | NP_597676.3:p.Val21906Ala | |
| NM_133437.4:c.65918T>C (TTN) | NP_597681.4:p.Val21973Ala | |
| NR_038271.1:n.447-22211A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+6728A>G (TTN-AS1) | ||
| XM_011511729.1:c.91634T>C (TTN) | XP_011510031.1:p.Val30545Ala | |
| XM_011511730.1:c.65528T>C (TTN) | XP_011510032.1:p.Val21843Ala | |
| XM_011511731.1:c.65387T>C (TTN) | XP_011510033.1:p.Val21796Ala | |
| XM_017004819.1:c.91430T>C (TTN) | XP_016860308.1:p.Val30477Ala | |
| XM_017004820.1:c.86828T>C (TTN) | XP_016860309.1:p.Val28943Ala | |
| XM_017004821.1:c.86825T>C (TTN) | XP_016860310.1:p.Val28942Ala | |
| XM_017004822.1:c.83867T>C (TTN) | XP_016860311.1:p.Val27956Ala | |
| XM_017004823.1:c.65483T>C (TTN) | XP_016860312.1:p.Val21828Ala | |
| XM_024453094.1:c.86978T>C (TTN) | XP_024308862.1:p.Val28993Ala | |
| XM_024453095.1:c.86975T>C (TTN) | XP_024308863.1:p.Val28992Ala | |
| XM_024453096.1:c.86408T>C (TTN) | XP_024308864.1:p.Val28803Ala | |
| XM_024453097.1:c.83750T>C (TTN) | XP_024308865.1:p.Val27917Ala | |
| XM_024453098.1:c.83669T>C (TTN) | XP_024308866.1:p.Val27890Ala | |
| XM_024453099.1:c.65432T>C (TTN) | XP_024308867.1:p.Val21811Ala | |
| XM_024453100.1:c.55286T>C (TTN) | XP_024308868.1:p.Val18429Ala |