Linked Data
ClinVar Variation Id:
47458
ClinVar RCV Id:
RCV000040727
RCV000184278
RCV000768876
RCV000627778
RCV002354211
RCV003389235
RCV002490567
RCV004541185
dbSNP Id:
rs397517735
ExAC:
2:179424036 A / T
gnomAD v2:
2-179424036-A-T
gnomAD v3:
2-178559309-A-T
gnomAD v4:
2-178559309-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559309A>T , CM000664.2:g.178559309A>T | GRCh38 |
| NC_000002.11:g.179424036A>T , CM000664.1:g.179424036A>T | GRCh37 |
| NC_000002.10:g.179132282A>T | NCBI36 |
| NG_011618.3:g.276494T>A , LRG_391:g.276494T>A | |
| NG_051363.1:g.41483A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79117+2T>A (TTN) | ENSP00000343764.6:n.79117+2T>A | |
| ENST00000342175.11:c.60202+2T>A (TTN) | ENSP00000340554.6:n.60202+2T>A | |
| ENST00000359218.10:c.60001+2T>A (TTN) | ENSP00000352154.5:n.60001+2T>A | |
| ENST00000342175.10:c.60202+2T>A (TTN) | ENSP00000340554.6:n.60202+2T>A | |
| ENST00000342992.10:c.79117+2T>A (TTN) | ENSP00000343764.6:n.79117+2T>A | |
| ENST00000359218.9:c.60001+2T>A (TTN) | ENSP00000352154.5:n.60001+2T>A | |
| ENST00000460472.6:c.59626+2T>A (TTN) | ENSP00000434586.1:n.59626+2T>A | |
| ENST00000589042.5:c.86821+2T>A (TTN) MANE Select | ENSP00000467141.1:n.86821+2T>A | |
| ENST00000591111.5:c.81898+2T>A (TTN) | ENSP00000465570.1:n.81898+2T>A | |
| ENST00000615779.4:c.81898+2T>A (TTN) | ENSP00000483597.1:n.81898+2T>A | |
| NM_001256850.1:c.81898+2T>A (TTN) | NP_001243779.1:n.81898+2T>A | |
| NM_001267550.2:c.86821+2T>A (TTN) MANE Select | NP_001254479.2:n.86821+2T>A | |
| NM_003319.4:c.59626+2T>A (TTN) | NP_003310.4:n.59626+2T>A | |
| NM_133378.4:c.79117+2T>A (TTN) | NP_596869.4:n.79117+2T>A | |
| NM_133432.3:c.60001+2T>A (TTN) | NP_597676.3:n.60001+2T>A | |
| NM_133437.4:c.60202+2T>A (TTN) | NP_597681.4:n.60202+2T>A | |
| NR_038271.1:n.447-11991A>T (TTN-AS1) | ||
| NR_038272.1:n.2043+16948A>T (TTN-AS1) | ||
| XM_011511729.1:c.85918+2T>A (TTN) | XP_011510031.1:n.85918+2T>A | |
| XM_011511730.1:c.59812+2T>A (TTN) | XP_011510032.1:n.59812+2T>A | |
| XM_011511731.1:c.59671+2T>A (TTN) | XP_011510033.1:n.59671+2T>A | |
| XM_017004819.1:c.85714+2T>A (TTN) | XP_016860308.1:n.85714+2T>A | |
| XM_017004820.1:c.81112+2T>A (TTN) | XP_016860309.1:n.81112+2T>A | |
| XM_017004821.1:c.81109+2T>A (TTN) | XP_016860310.1:n.81109+2T>A | |
| XM_017004822.1:c.78151+2T>A (TTN) | XP_016860311.1:n.78151+2T>A | |
| XM_017004823.1:c.59767+2T>A (TTN) | XP_016860312.1:n.59767+2T>A | |
| XM_024453094.1:c.81262+2T>A (TTN) | XP_024308862.1:n.81262+2T>A | |
| XM_024453095.1:c.81259+2T>A (TTN) | XP_024308863.1:n.81259+2T>A | |
| XM_024453096.1:c.80692+2T>A (TTN) | XP_024308864.1:n.80692+2T>A | |
| XM_024453097.1:c.78034+2T>A (TTN) | XP_024308865.1:n.78034+2T>A | |
| XM_024453098.1:c.77953+2T>A (TTN) | XP_024308866.1:n.77953+2T>A | |
| XM_024453099.1:c.59716+2T>A (TTN) | XP_024308867.1:n.59716+2T>A | |
| XM_024453100.1:c.49570+2T>A (TTN) | XP_024308868.1:n.49570+2T>A |