Linked Data
ClinVar Variation Id:
283028
dbSNP Id:
rs375141729
ExAC:
2:179468696 C / T
gnomAD v2:
2-179468696-C-T
gnomAD v3:
2-178603969-C-T
gnomAD v4:
2-178603969-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178603969C>T , CM000664.2:g.178603969C>T | GRCh38 |
| NC_000002.11:g.179468696C>T , CM000664.1:g.179468696C>T | GRCh37 |
| NC_000002.10:g.179176941C>T | NCBI36 |
| NG_011618.3:g.231834G>A , LRG_391:g.231834G>A | |
| NG_051363.1:g.86143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47014G>A (TTN) | ENSP00000343764.6:p.Val15672Ile | |
| ENST00000342175.11:c.28099G>A (TTN) | ENSP00000340554.6:p.Val9367Ile | |
| ENST00000359218.10:c.27898G>A (TTN) | ENSP00000352154.5:p.Val9300Ile | |
| ENST00000342175.10:c.28099G>A (TTN) | ENSP00000340554.6:p.Val9367Ile | |
| ENST00000342992.10:c.47014G>A (TTN) | ENSP00000343764.6:p.Val15672Ile | |
| ENST00000359218.9:c.27898G>A (TTN) | ENSP00000352154.5:p.Val9300Ile | |
| ENST00000460472.6:c.27523G>A (TTN) | ENSP00000434586.1:p.Val9175Ile | |
| ENST00000589042.5:c.54718G>A (TTN) MANE Select | ENSP00000467141.1:p.Val18240Ile | |
| ENST00000591111.5:c.49795G>A (TTN) | ENSP00000465570.1:p.Val16599Ile | |
| ENST00000615779.4:c.49795G>A (TTN) | ENSP00000483597.1:p.Val16599Ile | |
| NM_001256850.1:c.49795G>A (TTN) | NP_001243779.1:p.Val16599Ile | |
| NM_001267550.2:c.54718G>A (TTN) MANE Select | NP_001254479.2:p.Val18240Ile | |
| NM_003319.4:c.27523G>A (TTN) | NP_003310.4:p.Val9175Ile | |
| NM_133378.4:c.47014G>A (TTN) | NP_596869.4:p.Val15672Ile | |
| NM_133432.3:c.27898G>A (TTN) | NP_597676.3:p.Val9300Ile | |
| NM_133437.4:c.28099G>A (TTN) | NP_597681.4:p.Val9367Ile | |
| NR_038271.1:n.683-4198C>T (TTN-AS1) | ||
| NR_038272.1:n.3918-762C>T (TTN-AS1) | ||
| XM_011511729.1:c.53815G>A (TTN) | XP_011510031.1:p.Val17939Ile | |
| XM_011511730.1:c.27709G>A (TTN) | XP_011510032.1:p.Val9237Ile | |
| XM_011511731.1:c.27568G>A (TTN) | XP_011510033.1:p.Val9190Ile | |
| XM_017004819.1:c.53611G>A (TTN) | XP_016860308.1:p.Val17871Ile | |
| XM_017004820.1:c.49009G>A (TTN) | XP_016860309.1:p.Val16337Ile | |
| XM_017004821.1:c.49006G>A (TTN) | XP_016860310.1:p.Val16336Ile | |
| XM_017004822.1:c.46048G>A (TTN) | XP_016860311.1:p.Val15350Ile | |
| XM_017004823.1:c.27664G>A (TTN) | XP_016860312.1:p.Val9222Ile | |
| XM_024453094.1:c.49159G>A (TTN) | XP_024308862.1:p.Val16387Ile | |
| XM_024453095.1:c.49156G>A (TTN) | XP_024308863.1:p.Val16386Ile | |
| XM_024453096.1:c.48589G>A (TTN) | XP_024308864.1:p.Val16197Ile | |
| XM_024453097.1:c.45931G>A (TTN) | XP_024308865.1:p.Val15311Ile | |
| XM_024453098.1:c.45850G>A (TTN) | XP_024308866.1:p.Val15284Ile | |
| XM_024453099.1:c.27613G>A (TTN) | XP_024308867.1:p.Val9205Ile | |
| XM_024453100.1:c.17467G>A (TTN) | XP_024308868.1:p.Val5823Ile |