Linked Data
ClinVar Variation Id:
47093
ClinVar RCV Id:
RCV000040363
RCV000461813
RCV001131522
RCV001131523
RCV001131524
RCV001131525
RCV001131526
RCV001699025
RCV002433514
dbSNP Id:
rs116142642
ExAC:
2:179468729 C / T
gnomAD v2:
2-179468729-C-T
gnomAD v3:
2-178604002-C-T
gnomAD v4:
2-178604002-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178604002C>T , CM000664.2:g.178604002C>T | GRCh38 |
| NC_000002.11:g.179468729C>T , CM000664.1:g.179468729C>T | GRCh37 |
| NC_000002.10:g.179176974C>T | NCBI36 |
| NG_011618.3:g.231801G>A , LRG_391:g.231801G>A | |
| NG_051363.1:g.86176C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46981G>A (TTN) | ENSP00000343764.6:p.Val15661Met | |
| ENST00000342175.11:c.28066G>A (TTN) | ENSP00000340554.6:p.Val9356Met | |
| ENST00000359218.10:c.27865G>A (TTN) | ENSP00000352154.5:p.Val9289Met | |
| ENST00000342175.10:c.28066G>A (TTN) | ENSP00000340554.6:p.Val9356Met | |
| ENST00000342992.10:c.46981G>A (TTN) | ENSP00000343764.6:p.Val15661Met | |
| ENST00000359218.9:c.27865G>A (TTN) | ENSP00000352154.5:p.Val9289Met | |
| ENST00000460472.6:c.27490G>A (TTN) | ENSP00000434586.1:p.Val9164Met | |
| ENST00000589042.5:c.54685G>A (TTN) MANE Select | ENSP00000467141.1:p.Val18229Met | |
| ENST00000591111.5:c.49762G>A (TTN) | ENSP00000465570.1:p.Val16588Met | |
| ENST00000615779.4:c.49762G>A (TTN) | ENSP00000483597.1:p.Val16588Met | |
| NM_001256850.1:c.49762G>A (TTN) | NP_001243779.1:p.Val16588Met | |
| NM_001267550.2:c.54685G>A (TTN) MANE Select | NP_001254479.2:p.Val18229Met | |
| NM_003319.4:c.27490G>A (TTN) | NP_003310.4:p.Val9164Met | |
| NM_133378.4:c.46981G>A (TTN) | NP_596869.4:p.Val15661Met | |
| NM_133432.3:c.27865G>A (TTN) | NP_597676.3:p.Val9289Met | |
| NM_133437.4:c.28066G>A (TTN) | NP_597681.4:p.Val9356Met | |
| NR_038271.1:n.683-4165C>T (TTN-AS1) | ||
| NR_038272.1:n.3918-729C>T (TTN-AS1) | ||
| XM_011511729.1:c.53782G>A (TTN) | XP_011510031.1:p.Val17928Met | |
| XM_011511730.1:c.27676G>A (TTN) | XP_011510032.1:p.Val9226Met | |
| XM_011511731.1:c.27535G>A (TTN) | XP_011510033.1:p.Val9179Met | |
| XM_017004819.1:c.53578G>A (TTN) | XP_016860308.1:p.Val17860Met | |
| XM_017004820.1:c.48976G>A (TTN) | XP_016860309.1:p.Val16326Met | |
| XM_017004821.1:c.48973G>A (TTN) | XP_016860310.1:p.Val16325Met | |
| XM_017004822.1:c.46015G>A (TTN) | XP_016860311.1:p.Val15339Met | |
| XM_017004823.1:c.27631G>A (TTN) | XP_016860312.1:p.Val9211Met | |
| XM_024453094.1:c.49126G>A (TTN) | XP_024308862.1:p.Val16376Met | |
| XM_024453095.1:c.49123G>A (TTN) | XP_024308863.1:p.Val16375Met | |
| XM_024453096.1:c.48556G>A (TTN) | XP_024308864.1:p.Val16186Met | |
| XM_024453097.1:c.45898G>A (TTN) | XP_024308865.1:p.Val15300Met | |
| XM_024453098.1:c.45817G>A (TTN) | XP_024308866.1:p.Val15273Met | |
| XM_024453099.1:c.27580G>A (TTN) | XP_024308867.1:p.Val9194Met | |
| XM_024453100.1:c.17434G>A (TTN) | XP_024308868.1:p.Val5812Met |