Linked Data
ClinVar Variation Id:
130681
dbSNP Id:
rs73036377
ExAC:
2:179431963 A / T
gnomAD v2:
2-179431963-A-T
gnomAD v3:
2-178567236-A-T
gnomAD v4:
2-178567236-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567236A>T , CM000664.2:g.178567236A>T | GRCh38 |
| NC_000002.11:g.179431963A>T , CM000664.1:g.179431963A>T | GRCh37 |
| NC_000002.10:g.179140209A>T | NCBI36 |
| NG_011618.3:g.268567T>A , LRG_391:g.268567T>A | |
| NG_051363.1:g.49410A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71192T>A (TTN) | ENSP00000343764.6:p.Val23731Asp | |
| ENST00000342175.11:c.52277T>A (TTN) | ENSP00000340554.6:p.Val17426Asp | |
| ENST00000359218.10:c.52076T>A (TTN) | ENSP00000352154.5:p.Val17359Asp | |
| ENST00000342175.10:c.52277T>A (TTN) | ENSP00000340554.6:p.Val17426Asp | |
| ENST00000342992.10:c.71192T>A (TTN) | ENSP00000343764.6:p.Val23731Asp | |
| ENST00000359218.9:c.52076T>A (TTN) | ENSP00000352154.5:p.Val17359Asp | |
| ENST00000460472.6:c.51701T>A (TTN) | ENSP00000434586.1:p.Val17234Asp | |
| ENST00000589042.5:c.78896T>A (TTN) MANE Select | ENSP00000467141.1:p.Val26299Asp | |
| ENST00000591111.5:c.73973T>A (TTN) | ENSP00000465570.1:p.Val24658Asp | |
| ENST00000615779.4:c.73973T>A (TTN) | ENSP00000483597.1:p.Val24658Asp | |
| NM_001256850.1:c.73973T>A (TTN) | NP_001243779.1:p.Val24658Asp | |
| NM_001267550.2:c.78896T>A (TTN) MANE Select | NP_001254479.2:p.Val26299Asp | |
| NM_003319.4:c.51701T>A (TTN) | NP_003310.4:p.Val17234Asp | |
| NM_133378.4:c.71192T>A (TTN) | NP_596869.4:p.Val23731Asp | |
| NM_133432.3:c.52076T>A (TTN) | NP_597676.3:p.Val17359Asp | |
| NM_133437.4:c.52277T>A (TTN) | NP_597681.4:p.Val17426Asp | |
| NR_038271.1:n.447-4064A>T (TTN-AS1) | ||
| NR_038272.1:n.2044-15336A>T (TTN-AS1) | ||
| XM_011511729.1:c.77993T>A (TTN) | XP_011510031.1:p.Val25998Asp | |
| XM_011511730.1:c.51887T>A (TTN) | XP_011510032.1:p.Val17296Asp | |
| XM_011511731.1:c.51746T>A (TTN) | XP_011510033.1:p.Val17249Asp | |
| XM_017004819.1:c.77789T>A (TTN) | XP_016860308.1:p.Val25930Asp | |
| XM_017004820.1:c.73187T>A (TTN) | XP_016860309.1:p.Val24396Asp | |
| XM_017004821.1:c.73184T>A (TTN) | XP_016860310.1:p.Val24395Asp | |
| XM_017004822.1:c.70226T>A (TTN) | XP_016860311.1:p.Val23409Asp | |
| XM_017004823.1:c.51842T>A (TTN) | XP_016860312.1:p.Val17281Asp | |
| XM_024453094.1:c.73337T>A (TTN) | XP_024308862.1:p.Val24446Asp | |
| XM_024453095.1:c.73334T>A (TTN) | XP_024308863.1:p.Val24445Asp | |
| XM_024453096.1:c.72767T>A (TTN) | XP_024308864.1:p.Val24256Asp | |
| XM_024453097.1:c.70109T>A (TTN) | XP_024308865.1:p.Val23370Asp | |
| XM_024453098.1:c.70028T>A (TTN) | XP_024308866.1:p.Val23343Asp | |
| XM_024453099.1:c.51791T>A (TTN) | XP_024308867.1:p.Val17264Asp | |
| XM_024453100.1:c.41645T>A (TTN) | XP_024308868.1:p.Val13882Asp |