Linked Data
ClinVar Variation Id:
47292
ClinVar RCV Id:
RCV000040562
RCV000247125
RCV000273614
RCV000270031
RCV000328195
RCV000389086
RCV000362297
RCV000513284
RCV000768941
RCV001082634
dbSNP Id:
rs55847238
ExAC:
2:179440044 C / T
gnomAD v2:
2-179440044-C-T
gnomAD v3:
2-178575317-C-T
gnomAD v4:
2-178575317-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575317C>T , CM000664.2:g.178575317C>T | GRCh38 |
| NC_000002.11:g.179440044C>T , CM000664.1:g.179440044C>T | GRCh37 |
| NC_000002.10:g.179148290C>T | NCBI36 |
| NG_011618.3:g.260486G>A , LRG_391:g.260486G>A | |
| NG_051363.1:g.57491C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63111G>A (TTN) | ENSP00000343764.6:p.Val21037= | |
| ENST00000342175.11:c.44196G>A (TTN) | ENSP00000340554.6:p.Val14732= | |
| ENST00000359218.10:c.43995G>A (TTN) | ENSP00000352154.5:p.Val14665= | |
| ENST00000342175.10:c.44196G>A (TTN) | ENSP00000340554.6:p.Val14732= | |
| ENST00000342992.10:c.63111G>A (TTN) | ENSP00000343764.6:p.Val21037= | |
| ENST00000359218.9:c.43995G>A (TTN) | ENSP00000352154.5:p.Val14665= | |
| ENST00000460472.6:c.43620G>A (TTN) | ENSP00000434586.1:p.Val14540= | |
| ENST00000589042.5:c.70815G>A (TTN) MANE Select | ENSP00000467141.1:p.Val23605= | |
| ENST00000591111.5:c.65892G>A (TTN) | ENSP00000465570.1:p.Val21964= | |
| ENST00000615779.4:c.65892G>A (TTN) | ENSP00000483597.1:p.Val21964= | |
| NM_001256850.1:c.65892G>A (TTN) | NP_001243779.1:p.Val21964= | |
| NM_001267550.2:c.70815G>A (TTN) MANE Select | NP_001254479.2:p.Val23605= | |
| NM_003319.4:c.43620G>A (TTN) | NP_003310.4:p.Val14540= | |
| NM_133378.4:c.63111G>A (TTN) | NP_596869.4:p.Val21037= | |
| NM_133432.3:c.43995G>A (TTN) | NP_597676.3:p.Val14665= | |
| NM_133437.4:c.44196G>A (TTN) | NP_597681.4:p.Val14732= | |
| NR_038271.1:n.596+3868C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-7255C>T (TTN-AS1) | ||
| XM_011511729.1:c.69912G>A (TTN) | XP_011510031.1:p.Val23304= | |
| XM_011511730.1:c.43806G>A (TTN) | XP_011510032.1:p.Val14602= | |
| XM_011511731.1:c.43665G>A (TTN) | XP_011510033.1:p.Val14555= | |
| XM_017004819.1:c.69708G>A (TTN) | XP_016860308.1:p.Val23236= | |
| XM_017004820.1:c.65106G>A (TTN) | XP_016860309.1:p.Val21702= | |
| XM_017004821.1:c.65103G>A (TTN) | XP_016860310.1:p.Val21701= | |
| XM_017004822.1:c.62145G>A (TTN) | XP_016860311.1:p.Val20715= | |
| XM_017004823.1:c.43761G>A (TTN) | XP_016860312.1:p.Val14587= | |
| XM_024453094.1:c.65256G>A (TTN) | XP_024308862.1:p.Val21752= | |
| XM_024453095.1:c.65253G>A (TTN) | XP_024308863.1:p.Val21751= | |
| XM_024453096.1:c.64686G>A (TTN) | XP_024308864.1:p.Val21562= | |
| XM_024453097.1:c.62028G>A (TTN) | XP_024308865.1:p.Val20676= | |
| XM_024453098.1:c.61947G>A (TTN) | XP_024308866.1:p.Val20649= | |
| XM_024453099.1:c.43710G>A (TTN) | XP_024308867.1:p.Val14570= | |
| XM_024453100.1:c.33564G>A (TTN) | XP_024308868.1:p.Val11188= |