Linked Data
ClinVar Variation Id:
467303
ClinVar RCV Id:
RCV000527329
RCV001130066
RCV001130068
RCV001135100
RCV001135101
RCV003139809
RCV001130067
RCV002438409
RCV002476165
dbSNP Id:
rs764203267
ExAC:
2:179460522 C / T
gnomAD v2:
2-179460522-C-T
gnomAD v3:
2-178595795-C-T
gnomAD v4:
2-178595795-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178595795C>T , CM000664.2:g.178595795C>T | GRCh38 |
| NC_000002.11:g.179460522C>T , CM000664.1:g.179460522C>T | GRCh37 |
| NC_000002.10:g.179168768C>T | NCBI36 |
| NG_011618.3:g.240008G>A , LRG_391:g.240008G>A | |
| NG_051363.1:g.77969C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49855G>A (TTN) | ENSP00000343764.6:p.Val16619Ile | |
| ENST00000342175.11:c.30940G>A (TTN) | ENSP00000340554.6:p.Val10314Ile | |
| ENST00000359218.10:c.30739G>A (TTN) | ENSP00000352154.5:p.Val10247Ile | |
| ENST00000342175.10:c.30940G>A (TTN) | ENSP00000340554.6:p.Val10314Ile | |
| ENST00000342992.10:c.49855G>A (TTN) | ENSP00000343764.6:p.Val16619Ile | |
| ENST00000359218.9:c.30739G>A (TTN) | ENSP00000352154.5:p.Val10247Ile | |
| ENST00000460472.6:c.30364G>A (TTN) | ENSP00000434586.1:p.Val10122Ile | |
| ENST00000589042.5:c.57559G>A (TTN) MANE Select | ENSP00000467141.1:p.Val19187Ile | |
| ENST00000591111.5:c.52636G>A (TTN) | ENSP00000465570.1:p.Val17546Ile | |
| ENST00000615779.4:c.52636G>A (TTN) | ENSP00000483597.1:p.Val17546Ile | |
| NM_001256850.1:c.52636G>A (TTN) | NP_001243779.1:p.Val17546Ile | |
| NM_001267550.2:c.57559G>A (TTN) MANE Select | NP_001254479.2:p.Val19187Ile | |
| NM_003319.4:c.30364G>A (TTN) | NP_003310.4:p.Val10122Ile | |
| NM_133378.4:c.49855G>A (TTN) | NP_596869.4:p.Val16619Ile | |
| NM_133432.3:c.30739G>A (TTN) | NP_597676.3:p.Val10247Ile | |
| NM_133437.4:c.30940G>A (TTN) | NP_597681.4:p.Val10314Ile | |
| NR_038271.1:n.597-1801C>T (TTN-AS1) | ||
| NR_038272.1:n.3365-1801C>T (TTN-AS1) | ||
| XM_011511729.1:c.56656G>A (TTN) | XP_011510031.1:p.Val18886Ile | |
| XM_011511730.1:c.30550G>A (TTN) | XP_011510032.1:p.Val10184Ile | |
| XM_011511731.1:c.30409G>A (TTN) | XP_011510033.1:p.Val10137Ile | |
| XM_017004819.1:c.56452G>A (TTN) | XP_016860308.1:p.Val18818Ile | |
| XM_017004820.1:c.51850G>A (TTN) | XP_016860309.1:p.Val17284Ile | |
| XM_017004821.1:c.51847G>A (TTN) | XP_016860310.1:p.Val17283Ile | |
| XM_017004822.1:c.48889G>A (TTN) | XP_016860311.1:p.Val16297Ile | |
| XM_017004823.1:c.30505G>A (TTN) | XP_016860312.1:p.Val10169Ile | |
| XM_024453094.1:c.52000G>A (TTN) | XP_024308862.1:p.Val17334Ile | |
| XM_024453095.1:c.51997G>A (TTN) | XP_024308863.1:p.Val17333Ile | |
| XM_024453096.1:c.51430G>A (TTN) | XP_024308864.1:p.Val17144Ile | |
| XM_024453097.1:c.48772G>A (TTN) | XP_024308865.1:p.Val16258Ile | |
| XM_024453098.1:c.48691G>A (TTN) | XP_024308866.1:p.Val16231Ile | |
| XM_024453099.1:c.30454G>A (TTN) | XP_024308867.1:p.Val10152Ile | |
| XM_024453100.1:c.20308G>A (TTN) | XP_024308868.1:p.Val6770Ile |