Linked Data
ClinVar Variation Id:
404777
dbSNP Id:
rs374764110
ExAC:
2:179432795 C / T
gnomAD v2:
2-179432795-C-T
gnomAD v3:
2-178568068-C-T
gnomAD v4:
2-178568068-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568068C>T , CM000664.2:g.178568068C>T | GRCh38 |
| NC_000002.11:g.179432795C>T , CM000664.1:g.179432795C>T | GRCh37 |
| NC_000002.10:g.179141041C>T | NCBI36 |
| NG_011618.3:g.267735G>A , LRG_391:g.267735G>A | |
| NG_051363.1:g.50242C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70360G>A (TTN) | ENSP00000343764.6:p.Val23454Ile | |
| ENST00000342175.11:c.51445G>A (TTN) | ENSP00000340554.6:p.Val17149Ile | |
| ENST00000359218.10:c.51244G>A (TTN) | ENSP00000352154.5:p.Val17082Ile | |
| ENST00000342175.10:c.51445G>A (TTN) | ENSP00000340554.6:p.Val17149Ile | |
| ENST00000342992.10:c.70360G>A (TTN) | ENSP00000343764.6:p.Val23454Ile | |
| ENST00000359218.9:c.51244G>A (TTN) | ENSP00000352154.5:p.Val17082Ile | |
| ENST00000460472.6:c.50869G>A (TTN) | ENSP00000434586.1:p.Val16957Ile | |
| ENST00000589042.5:c.78064G>A (TTN) MANE Select | ENSP00000467141.1:p.Val26022Ile | |
| ENST00000591111.5:c.73141G>A (TTN) | ENSP00000465570.1:p.Val24381Ile | |
| ENST00000615779.4:c.73141G>A (TTN) | ENSP00000483597.1:p.Val24381Ile | |
| NM_001256850.1:c.73141G>A (TTN) | NP_001243779.1:p.Val24381Ile | |
| NM_001267550.2:c.78064G>A (TTN) MANE Select | NP_001254479.2:p.Val26022Ile | |
| NM_003319.4:c.50869G>A (TTN) | NP_003310.4:p.Val16957Ile | |
| NM_133378.4:c.70360G>A (TTN) | NP_596869.4:p.Val23454Ile | |
| NM_133432.3:c.51244G>A (TTN) | NP_597676.3:p.Val17082Ile | |
| NM_133437.4:c.51445G>A (TTN) | NP_597681.4:p.Val17149Ile | |
| NR_038271.1:n.447-3232C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-14504C>T (TTN-AS1) | ||
| XM_011511729.1:c.77161G>A (TTN) | XP_011510031.1:p.Val25721Ile | |
| XM_011511730.1:c.51055G>A (TTN) | XP_011510032.1:p.Val17019Ile | |
| XM_011511731.1:c.50914G>A (TTN) | XP_011510033.1:p.Val16972Ile | |
| XM_017004819.1:c.76957G>A (TTN) | XP_016860308.1:p.Val25653Ile | |
| XM_017004820.1:c.72355G>A (TTN) | XP_016860309.1:p.Val24119Ile | |
| XM_017004821.1:c.72352G>A (TTN) | XP_016860310.1:p.Val24118Ile | |
| XM_017004822.1:c.69394G>A (TTN) | XP_016860311.1:p.Val23132Ile | |
| XM_017004823.1:c.51010G>A (TTN) | XP_016860312.1:p.Val17004Ile | |
| XM_024453094.1:c.72505G>A (TTN) | XP_024308862.1:p.Val24169Ile | |
| XM_024453095.1:c.72502G>A (TTN) | XP_024308863.1:p.Val24168Ile | |
| XM_024453096.1:c.71935G>A (TTN) | XP_024308864.1:p.Val23979Ile | |
| XM_024453097.1:c.69277G>A (TTN) | XP_024308865.1:p.Val23093Ile | |
| XM_024453098.1:c.69196G>A (TTN) | XP_024308866.1:p.Val23066Ile | |
| XM_024453099.1:c.50959G>A (TTN) | XP_024308867.1:p.Val16987Ile | |
| XM_024453100.1:c.40813G>A (TTN) | XP_024308868.1:p.Val13605Ile |