Linked Data
ClinVar Variation Id:
202865
dbSNP Id:
rs200287703
ExAC:
2:179434840 A / T
gnomAD v2:
2-179434840-A-T
gnomAD v3:
2-178570113-A-T
gnomAD v4:
2-178570113-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570113A>T , CM000664.2:g.178570113A>T | GRCh38 |
| NC_000002.11:g.179434840A>T , CM000664.1:g.179434840A>T | GRCh37 |
| NC_000002.10:g.179143086A>T | NCBI36 |
| NG_011618.3:g.265690T>A , LRG_391:g.265690T>A | |
| NG_051363.1:g.52287A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68315T>A (TTN) | ENSP00000343764.6:p.Val22772Asp | |
| ENST00000342175.11:c.49400T>A (TTN) | ENSP00000340554.6:p.Val16467Asp | |
| ENST00000359218.10:c.49199T>A (TTN) | ENSP00000352154.5:p.Val16400Asp | |
| ENST00000342175.10:c.49400T>A (TTN) | ENSP00000340554.6:p.Val16467Asp | |
| ENST00000342992.10:c.68315T>A (TTN) | ENSP00000343764.6:p.Val22772Asp | |
| ENST00000359218.9:c.49199T>A (TTN) | ENSP00000352154.5:p.Val16400Asp | |
| ENST00000460472.6:c.48824T>A (TTN) | ENSP00000434586.1:p.Val16275Asp | |
| ENST00000589042.5:c.76019T>A (TTN) MANE Select | ENSP00000467141.1:p.Val25340Asp | |
| ENST00000591111.5:c.71096T>A (TTN) | ENSP00000465570.1:p.Val23699Asp | |
| ENST00000615779.4:c.71096T>A (TTN) | ENSP00000483597.1:p.Val23699Asp | |
| NM_001256850.1:c.71096T>A (TTN) | NP_001243779.1:p.Val23699Asp | |
| NM_001267550.2:c.76019T>A (TTN) MANE Select | NP_001254479.2:p.Val25340Asp | |
| NM_003319.4:c.48824T>A (TTN) | NP_003310.4:p.Val16275Asp | |
| NM_133378.4:c.68315T>A (TTN) | NP_596869.4:p.Val22772Asp | |
| NM_133432.3:c.49199T>A (TTN) | NP_597676.3:p.Val16400Asp | |
| NM_133437.4:c.49400T>A (TTN) | NP_597681.4:p.Val16467Asp | |
| NR_038271.1:n.447-1187A>T (TTN-AS1) | ||
| NR_038272.1:n.2044-12459A>T (TTN-AS1) | ||
| XM_011511729.1:c.75116T>A (TTN) | XP_011510031.1:p.Val25039Asp | |
| XM_011511730.1:c.49010T>A (TTN) | XP_011510032.1:p.Val16337Asp | |
| XM_011511731.1:c.48869T>A (TTN) | XP_011510033.1:p.Val16290Asp | |
| XM_017004819.1:c.74912T>A (TTN) | XP_016860308.1:p.Val24971Asp | |
| XM_017004820.1:c.70310T>A (TTN) | XP_016860309.1:p.Val23437Asp | |
| XM_017004821.1:c.70307T>A (TTN) | XP_016860310.1:p.Val23436Asp | |
| XM_017004822.1:c.67349T>A (TTN) | XP_016860311.1:p.Val22450Asp | |
| XM_017004823.1:c.48965T>A (TTN) | XP_016860312.1:p.Val16322Asp | |
| XM_024453094.1:c.70460T>A (TTN) | XP_024308862.1:p.Val23487Asp | |
| XM_024453095.1:c.70457T>A (TTN) | XP_024308863.1:p.Val23486Asp | |
| XM_024453096.1:c.69890T>A (TTN) | XP_024308864.1:p.Val23297Asp | |
| XM_024453097.1:c.67232T>A (TTN) | XP_024308865.1:p.Val22411Asp | |
| XM_024453098.1:c.67151T>A (TTN) | XP_024308866.1:p.Val22384Asp | |
| XM_024453099.1:c.48914T>A (TTN) | XP_024308867.1:p.Val16305Asp | |
| XM_024453100.1:c.38768T>A (TTN) | XP_024308868.1:p.Val12923Asp |