Linked Data
ClinVar Variation Id:
47135
ClinVar RCV Id:
RCV000040405
RCV000184655
RCV000302892
RCV000335169
RCV000338819
RCV000396639
RCV000401844
RCV001087765
RCV002321520
dbSNP Id:
rs397517636
ExAC:
2:179458694 C / T
gnomAD v2:
2-179458694-C-T
gnomAD v3:
2-178593967-C-T
gnomAD v4:
2-178593967-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593967C>T , CM000664.2:g.178593967C>T | GRCh38 |
| NC_000002.11:g.179458694C>T , CM000664.1:g.179458694C>T | GRCh37 |
| NC_000002.10:g.179166940C>T | NCBI36 |
| NG_011618.3:g.241836G>A , LRG_391:g.241836G>A | |
| NG_051363.1:g.76141C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50722G>A (TTN) | ENSP00000343764.6:p.Val16908Ile | |
| ENST00000342175.11:c.31807G>A (TTN) | ENSP00000340554.6:p.Val10603Ile | |
| ENST00000359218.10:c.31606G>A (TTN) | ENSP00000352154.5:p.Val10536Ile | |
| ENST00000342175.10:c.31807G>A (TTN) | ENSP00000340554.6:p.Val10603Ile | |
| ENST00000342992.10:c.50722G>A (TTN) | ENSP00000343764.6:p.Val16908Ile | |
| ENST00000359218.9:c.31606G>A (TTN) | ENSP00000352154.5:p.Val10536Ile | |
| ENST00000460472.6:c.31231G>A (TTN) | ENSP00000434586.1:p.Val10411Ile | |
| ENST00000589042.5:c.58426G>A (TTN) MANE Select | ENSP00000467141.1:p.Val19476Ile | |
| ENST00000591111.5:c.53503G>A (TTN) | ENSP00000465570.1:p.Val17835Ile | |
| ENST00000615779.4:c.53503G>A (TTN) | ENSP00000483597.1:p.Val17835Ile | |
| NM_001256850.1:c.53503G>A (TTN) | NP_001243779.1:p.Val17835Ile | |
| NM_001267550.2:c.58426G>A (TTN) MANE Select | NP_001254479.2:p.Val19476Ile | |
| NM_003319.4:c.31231G>A (TTN) | NP_003310.4:p.Val10411Ile | |
| NM_133378.4:c.50722G>A (TTN) | NP_596869.4:p.Val16908Ile | |
| NM_133432.3:c.31606G>A (TTN) | NP_597676.3:p.Val10536Ile | |
| NM_133437.4:c.31807G>A (TTN) | NP_597681.4:p.Val10603Ile | |
| NR_038271.1:n.597-3629C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+2653C>T (TTN-AS1) | ||
| XM_011511729.1:c.57523G>A (TTN) | XP_011510031.1:p.Val19175Ile | |
| XM_011511730.1:c.31417G>A (TTN) | XP_011510032.1:p.Val10473Ile | |
| XM_011511731.1:c.31276G>A (TTN) | XP_011510033.1:p.Val10426Ile | |
| XM_017004819.1:c.57319G>A (TTN) | XP_016860308.1:p.Val19107Ile | |
| XM_017004820.1:c.52717G>A (TTN) | XP_016860309.1:p.Val17573Ile | |
| XM_017004821.1:c.52714G>A (TTN) | XP_016860310.1:p.Val17572Ile | |
| XM_017004822.1:c.49756G>A (TTN) | XP_016860311.1:p.Val16586Ile | |
| XM_017004823.1:c.31372G>A (TTN) | XP_016860312.1:p.Val10458Ile | |
| XM_024453094.1:c.52867G>A (TTN) | XP_024308862.1:p.Val17623Ile | |
| XM_024453095.1:c.52864G>A (TTN) | XP_024308863.1:p.Val17622Ile | |
| XM_024453096.1:c.52297G>A (TTN) | XP_024308864.1:p.Val17433Ile | |
| XM_024453097.1:c.49639G>A (TTN) | XP_024308865.1:p.Val16547Ile | |
| XM_024453098.1:c.49558G>A (TTN) | XP_024308866.1:p.Val16520Ile | |
| XM_024453099.1:c.31321G>A (TTN) | XP_024308867.1:p.Val10441Ile | |
| XM_024453100.1:c.21175G>A (TTN) | XP_024308868.1:p.Val7059Ile |