Linked Data
ClinVar Variation Id:
283480
ClinVar RCV Id:
RCV000316374
RCV000643246
RCV000768916
RCV001293049
RCV001707610
RCV002347994
RCV004535298
dbSNP Id:
rs572384303
ExAC:
2:179432791 A / G
gnomAD v2:
2-179432791-A-G
gnomAD v3:
2-178568064-A-G
gnomAD v4:
2-178568064-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568064A>G , CM000664.2:g.178568064A>G | GRCh38 |
| NC_000002.11:g.179432791A>G , CM000664.1:g.179432791A>G | GRCh37 |
| NC_000002.10:g.179141037A>G | NCBI36 |
| NG_011618.3:g.267739T>C , LRG_391:g.267739T>C | |
| NG_051363.1:g.50238A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70364T>C (TTN) | ENSP00000343764.6:p.Ile23455Thr | |
| ENST00000342175.11:c.51449T>C (TTN) | ENSP00000340554.6:p.Ile17150Thr | |
| ENST00000359218.10:c.51248T>C (TTN) | ENSP00000352154.5:p.Ile17083Thr | |
| ENST00000342175.10:c.51449T>C (TTN) | ENSP00000340554.6:p.Ile17150Thr | |
| ENST00000342992.10:c.70364T>C (TTN) | ENSP00000343764.6:p.Ile23455Thr | |
| ENST00000359218.9:c.51248T>C (TTN) | ENSP00000352154.5:p.Ile17083Thr | |
| ENST00000460472.6:c.50873T>C (TTN) | ENSP00000434586.1:p.Ile16958Thr | |
| ENST00000589042.5:c.78068T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile26023Thr | |
| ENST00000591111.5:c.73145T>C (TTN) | ENSP00000465570.1:p.Ile24382Thr | |
| ENST00000615779.4:c.73145T>C (TTN) | ENSP00000483597.1:p.Ile24382Thr | |
| NM_001256850.1:c.73145T>C (TTN) | NP_001243779.1:p.Ile24382Thr | |
| NM_001267550.2:c.78068T>C (TTN) MANE Select | NP_001254479.2:p.Ile26023Thr | |
| NM_003319.4:c.50873T>C (TTN) | NP_003310.4:p.Ile16958Thr | |
| NM_133378.4:c.70364T>C (TTN) | NP_596869.4:p.Ile23455Thr | |
| NM_133432.3:c.51248T>C (TTN) | NP_597676.3:p.Ile17083Thr | |
| NM_133437.4:c.51449T>C (TTN) | NP_597681.4:p.Ile17150Thr | |
| NR_038271.1:n.447-3236A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-14508A>G (TTN-AS1) | ||
| XM_011511729.1:c.77165T>C (TTN) | XP_011510031.1:p.Ile25722Thr | |
| XM_011511730.1:c.51059T>C (TTN) | XP_011510032.1:p.Ile17020Thr | |
| XM_011511731.1:c.50918T>C (TTN) | XP_011510033.1:p.Ile16973Thr | |
| XM_017004819.1:c.76961T>C (TTN) | XP_016860308.1:p.Ile25654Thr | |
| XM_017004820.1:c.72359T>C (TTN) | XP_016860309.1:p.Ile24120Thr | |
| XM_017004821.1:c.72356T>C (TTN) | XP_016860310.1:p.Ile24119Thr | |
| XM_017004822.1:c.69398T>C (TTN) | XP_016860311.1:p.Ile23133Thr | |
| XM_017004823.1:c.51014T>C (TTN) | XP_016860312.1:p.Ile17005Thr | |
| XM_024453094.1:c.72509T>C (TTN) | XP_024308862.1:p.Ile24170Thr | |
| XM_024453095.1:c.72506T>C (TTN) | XP_024308863.1:p.Ile24169Thr | |
| XM_024453096.1:c.71939T>C (TTN) | XP_024308864.1:p.Ile23980Thr | |
| XM_024453097.1:c.69281T>C (TTN) | XP_024308865.1:p.Ile23094Thr | |
| XM_024453098.1:c.69200T>C (TTN) | XP_024308866.1:p.Ile23067Thr | |
| XM_024453099.1:c.50963T>C (TTN) | XP_024308867.1:p.Ile16988Thr | |
| XM_024453100.1:c.40817T>C (TTN) | XP_024308868.1:p.Ile13606Thr |