Linked Data
ClinVar Variation Id:
47403
dbSNP Id:
rs372784067
ExAC:
2:179429003 C / T
gnomAD v2:
2-179429003-C-T
gnomAD v3:
2-178564276-C-T
gnomAD v4:
2-178564276-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564276C>T , CM000664.2:g.178564276C>T | GRCh38 |
| NC_000002.11:g.179429003C>T , CM000664.1:g.179429003C>T | GRCh37 |
| NC_000002.10:g.179137249C>T | NCBI36 |
| NG_011618.3:g.271527G>A , LRG_391:g.271527G>A | |
| NG_051363.1:g.46450C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74152G>A (TTN) | ENSP00000343764.6:p.Val24718Ile | |
| ENST00000342175.11:c.55237G>A (TTN) | ENSP00000340554.6:p.Val18413Ile | |
| ENST00000359218.10:c.55036G>A (TTN) | ENSP00000352154.5:p.Val18346Ile | |
| ENST00000342175.10:c.55237G>A (TTN) | ENSP00000340554.6:p.Val18413Ile | |
| ENST00000342992.10:c.74152G>A (TTN) | ENSP00000343764.6:p.Val24718Ile | |
| ENST00000359218.9:c.55036G>A (TTN) | ENSP00000352154.5:p.Val18346Ile | |
| ENST00000460472.6:c.54661G>A (TTN) | ENSP00000434586.1:p.Val18221Ile | |
| ENST00000589042.5:c.81856G>A (TTN) MANE Select | ENSP00000467141.1:p.Val27286Ile | |
| ENST00000591111.5:c.76933G>A (TTN) | ENSP00000465570.1:p.Val25645Ile | |
| ENST00000615779.4:c.76933G>A (TTN) | ENSP00000483597.1:p.Val25645Ile | |
| NM_001256850.1:c.76933G>A (TTN) | NP_001243779.1:p.Val25645Ile | |
| NM_001267550.2:c.81856G>A (TTN) MANE Select | NP_001254479.2:p.Val27286Ile | |
| NM_003319.4:c.54661G>A (TTN) | NP_003310.4:p.Val18221Ile | |
| NM_133378.4:c.74152G>A (TTN) | NP_596869.4:p.Val24718Ile | |
| NM_133432.3:c.55036G>A (TTN) | NP_597676.3:p.Val18346Ile | |
| NM_133437.4:c.55237G>A (TTN) | NP_597681.4:p.Val18413Ile | |
| NR_038271.1:n.447-7024C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-18296C>T (TTN-AS1) | ||
| XM_011511729.1:c.80953G>A (TTN) | XP_011510031.1:p.Val26985Ile | |
| XM_011511730.1:c.54847G>A (TTN) | XP_011510032.1:p.Val18283Ile | |
| XM_011511731.1:c.54706G>A (TTN) | XP_011510033.1:p.Val18236Ile | |
| XM_017004819.1:c.80749G>A (TTN) | XP_016860308.1:p.Val26917Ile | |
| XM_017004820.1:c.76147G>A (TTN) | XP_016860309.1:p.Val25383Ile | |
| XM_017004821.1:c.76144G>A (TTN) | XP_016860310.1:p.Val25382Ile | |
| XM_017004822.1:c.73186G>A (TTN) | XP_016860311.1:p.Val24396Ile | |
| XM_017004823.1:c.54802G>A (TTN) | XP_016860312.1:p.Val18268Ile | |
| XM_024453094.1:c.76297G>A (TTN) | XP_024308862.1:p.Val25433Ile | |
| XM_024453095.1:c.76294G>A (TTN) | XP_024308863.1:p.Val25432Ile | |
| XM_024453096.1:c.75727G>A (TTN) | XP_024308864.1:p.Val25243Ile | |
| XM_024453097.1:c.73069G>A (TTN) | XP_024308865.1:p.Val24357Ile | |
| XM_024453098.1:c.72988G>A (TTN) | XP_024308866.1:p.Val24330Ile | |
| XM_024453099.1:c.54751G>A (TTN) | XP_024308867.1:p.Val18251Ile | |
| XM_024453100.1:c.44605G>A (TTN) | XP_024308868.1:p.Val14869Ile |