Linked Data
ClinVar Variation Id:
467494
ClinVar RCV Id:
RCV000554136
dbSNP Id:
rs760782774
ExAC:
2:179434148 C / T
gnomAD v2:
2-179434148-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569421C>T , CM000664.2:g.178569421C>T | GRCh38 |
| NC_000002.11:g.179434148C>T , CM000664.1:g.179434148C>T | GRCh37 |
| NC_000002.10:g.179142394C>T | NCBI36 |
| NG_011618.3:g.266382G>A , LRG_391:g.266382G>A | |
| NG_051363.1:g.51595C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69007G>A (TTN) | ENSP00000343764.6:p.Val23003Ile | |
| ENST00000342175.11:c.50092G>A (TTN) | ENSP00000340554.6:p.Val16698Ile | |
| ENST00000359218.10:c.49891G>A (TTN) | ENSP00000352154.5:p.Val16631Ile | |
| ENST00000342175.10:c.50092G>A (TTN) | ENSP00000340554.6:p.Val16698Ile | |
| ENST00000342992.10:c.69007G>A (TTN) | ENSP00000343764.6:p.Val23003Ile | |
| ENST00000359218.9:c.49891G>A (TTN) | ENSP00000352154.5:p.Val16631Ile | |
| ENST00000460472.6:c.49516G>A (TTN) | ENSP00000434586.1:p.Val16506Ile | |
| ENST00000589042.5:c.76711G>A (TTN) MANE Select | ENSP00000467141.1:p.Val25571Ile | |
| ENST00000591111.5:c.71788G>A (TTN) | ENSP00000465570.1:p.Val23930Ile | |
| ENST00000615779.4:c.71788G>A (TTN) | ENSP00000483597.1:p.Val23930Ile | |
| NM_001256850.1:c.71788G>A (TTN) | NP_001243779.1:p.Val23930Ile | |
| NM_001267550.2:c.76711G>A (TTN) MANE Select | NP_001254479.2:p.Val25571Ile | |
| NM_003319.4:c.49516G>A (TTN) | NP_003310.4:p.Val16506Ile | |
| NM_133378.4:c.69007G>A (TTN) | NP_596869.4:p.Val23003Ile | |
| NM_133432.3:c.49891G>A (TTN) | NP_597676.3:p.Val16631Ile | |
| NM_133437.4:c.50092G>A (TTN) | NP_597681.4:p.Val16698Ile | |
| NR_038271.1:n.447-1879C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-13151C>T (TTN-AS1) | ||
| XM_011511729.1:c.75808G>A (TTN) | XP_011510031.1:p.Val25270Ile | |
| XM_011511730.1:c.49702G>A (TTN) | XP_011510032.1:p.Val16568Ile | |
| XM_011511731.1:c.49561G>A (TTN) | XP_011510033.1:p.Val16521Ile | |
| XM_017004819.1:c.75604G>A (TTN) | XP_016860308.1:p.Val25202Ile | |
| XM_017004820.1:c.71002G>A (TTN) | XP_016860309.1:p.Val23668Ile | |
| XM_017004821.1:c.70999G>A (TTN) | XP_016860310.1:p.Val23667Ile | |
| XM_017004822.1:c.68041G>A (TTN) | XP_016860311.1:p.Val22681Ile | |
| XM_017004823.1:c.49657G>A (TTN) | XP_016860312.1:p.Val16553Ile | |
| XM_024453094.1:c.71152G>A (TTN) | XP_024308862.1:p.Val23718Ile | |
| XM_024453095.1:c.71149G>A (TTN) | XP_024308863.1:p.Val23717Ile | |
| XM_024453096.1:c.70582G>A (TTN) | XP_024308864.1:p.Val23528Ile | |
| XM_024453097.1:c.67924G>A (TTN) | XP_024308865.1:p.Val22642Ile | |
| XM_024453098.1:c.67843G>A (TTN) | XP_024308866.1:p.Val22615Ile | |
| XM_024453099.1:c.49606G>A (TTN) | XP_024308867.1:p.Val16536Ile | |
| XM_024453100.1:c.39460G>A (TTN) | XP_024308868.1:p.Val13154Ile |