Linked Data
ClinVar Variation Id:
202873
ClinVar RCV Id:
RCV000184837
dbSNP Id:
rs794729501
gnomAD v2:
2-179434043-C-T
gnomAD v3:
2-178569316-C-T
gnomAD v4:
2-178569316-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569316C>T , CM000664.2:g.178569316C>T | GRCh38 |
| NC_000002.11:g.179434043C>T , CM000664.1:g.179434043C>T | GRCh37 |
| NC_000002.10:g.179142289C>T | NCBI36 |
| NG_011618.3:g.266487G>A , LRG_391:g.266487G>A | |
| NG_051363.1:g.51490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69112G>A (TTN) | ENSP00000343764.6:p.Val23038Ile | |
| ENST00000342175.11:c.50197G>A (TTN) | ENSP00000340554.6:p.Val16733Ile | |
| ENST00000359218.10:c.49996G>A (TTN) | ENSP00000352154.5:p.Val16666Ile | |
| ENST00000342175.10:c.50197G>A (TTN) | ENSP00000340554.6:p.Val16733Ile | |
| ENST00000342992.10:c.69112G>A (TTN) | ENSP00000343764.6:p.Val23038Ile | |
| ENST00000359218.9:c.49996G>A (TTN) | ENSP00000352154.5:p.Val16666Ile | |
| ENST00000460472.6:c.49621G>A (TTN) | ENSP00000434586.1:p.Val16541Ile | |
| ENST00000589042.5:c.76816G>A (TTN) MANE Select | ENSP00000467141.1:p.Val25606Ile | |
| ENST00000591111.5:c.71893G>A (TTN) | ENSP00000465570.1:p.Val23965Ile | |
| ENST00000615779.4:c.71893G>A (TTN) | ENSP00000483597.1:p.Val23965Ile | |
| NM_001256850.1:c.71893G>A (TTN) | NP_001243779.1:p.Val23965Ile | |
| NM_001267550.2:c.76816G>A (TTN) MANE Select | NP_001254479.2:p.Val25606Ile | |
| NM_003319.4:c.49621G>A (TTN) | NP_003310.4:p.Val16541Ile | |
| NM_133378.4:c.69112G>A (TTN) | NP_596869.4:p.Val23038Ile | |
| NM_133432.3:c.49996G>A (TTN) | NP_597676.3:p.Val16666Ile | |
| NM_133437.4:c.50197G>A (TTN) | NP_597681.4:p.Val16733Ile | |
| NR_038271.1:n.447-1984C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-13256C>T (TTN-AS1) | ||
| XM_011511729.1:c.75913G>A (TTN) | XP_011510031.1:p.Val25305Ile | |
| XM_011511730.1:c.49807G>A (TTN) | XP_011510032.1:p.Val16603Ile | |
| XM_011511731.1:c.49666G>A (TTN) | XP_011510033.1:p.Val16556Ile | |
| XM_017004819.1:c.75709G>A (TTN) | XP_016860308.1:p.Val25237Ile | |
| XM_017004820.1:c.71107G>A (TTN) | XP_016860309.1:p.Val23703Ile | |
| XM_017004821.1:c.71104G>A (TTN) | XP_016860310.1:p.Val23702Ile | |
| XM_017004822.1:c.68146G>A (TTN) | XP_016860311.1:p.Val22716Ile | |
| XM_017004823.1:c.49762G>A (TTN) | XP_016860312.1:p.Val16588Ile | |
| XM_024453094.1:c.71257G>A (TTN) | XP_024308862.1:p.Val23753Ile | |
| XM_024453095.1:c.71254G>A (TTN) | XP_024308863.1:p.Val23752Ile | |
| XM_024453096.1:c.70687G>A (TTN) | XP_024308864.1:p.Val23563Ile | |
| XM_024453097.1:c.68029G>A (TTN) | XP_024308865.1:p.Val22677Ile | |
| XM_024453098.1:c.67948G>A (TTN) | XP_024308866.1:p.Val22650Ile | |
| XM_024453099.1:c.49711G>A (TTN) | XP_024308867.1:p.Val16571Ile | |
| XM_024453100.1:c.39565G>A (TTN) | XP_024308868.1:p.Val13189Ile |