Linked Data
ClinVar Variation Id:
332770
ClinVar RCV Id:
RCV000290515
RCV000304219
RCV000342754
RCV000398558
RCV000400755
RCV000643313
RCV001705503
RCV002338919
dbSNP Id:
rs377618488
ExAC:
2:179431704 C / T
gnomAD v2:
2-179431704-C-T
gnomAD v3:
2-178566977-C-T
gnomAD v4:
2-178566977-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566977C>T , CM000664.2:g.178566977C>T | GRCh38 |
| NC_000002.11:g.179431704C>T , CM000664.1:g.179431704C>T | GRCh37 |
| NC_000002.10:g.179139950C>T | NCBI36 |
| NG_011618.3:g.268826G>A , LRG_391:g.268826G>A | |
| NG_051363.1:g.49151C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71451G>A (TTN) | ENSP00000343764.6:p.Val23817= | |
| ENST00000342175.11:c.52536G>A (TTN) | ENSP00000340554.6:p.Val17512= | |
| ENST00000359218.10:c.52335G>A (TTN) | ENSP00000352154.5:p.Val17445= | |
| ENST00000342175.10:c.52536G>A (TTN) | ENSP00000340554.6:p.Val17512= | |
| ENST00000342992.10:c.71451G>A (TTN) | ENSP00000343764.6:p.Val23817= | |
| ENST00000359218.9:c.52335G>A (TTN) | ENSP00000352154.5:p.Val17445= | |
| ENST00000460472.6:c.51960G>A (TTN) | ENSP00000434586.1:p.Val17320= | |
| ENST00000589042.5:c.79155G>A (TTN) MANE Select | ENSP00000467141.1:p.Val26385= | |
| ENST00000591111.5:c.74232G>A (TTN) | ENSP00000465570.1:p.Val24744= | |
| ENST00000615779.4:c.74232G>A (TTN) | ENSP00000483597.1:p.Val24744= | |
| NM_001256850.1:c.74232G>A (TTN) | NP_001243779.1:p.Val24744= | |
| NM_001267550.2:c.79155G>A (TTN) MANE Select | NP_001254479.2:p.Val26385= | |
| NM_003319.4:c.51960G>A (TTN) | NP_003310.4:p.Val17320= | |
| NM_133378.4:c.71451G>A (TTN) | NP_596869.4:p.Val23817= | |
| NM_133432.3:c.52335G>A (TTN) | NP_597676.3:p.Val17445= | |
| NM_133437.4:c.52536G>A (TTN) | NP_597681.4:p.Val17512= | |
| NR_038271.1:n.447-4323C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-15595C>T (TTN-AS1) | ||
| XM_011511729.1:c.78252G>A (TTN) | XP_011510031.1:p.Val26084= | |
| XM_011511730.1:c.52146G>A (TTN) | XP_011510032.1:p.Val17382= | |
| XM_011511731.1:c.52005G>A (TTN) | XP_011510033.1:p.Val17335= | |
| XM_017004819.1:c.78048G>A (TTN) | XP_016860308.1:p.Val26016= | |
| XM_017004820.1:c.73446G>A (TTN) | XP_016860309.1:p.Val24482= | |
| XM_017004821.1:c.73443G>A (TTN) | XP_016860310.1:p.Val24481= | |
| XM_017004822.1:c.70485G>A (TTN) | XP_016860311.1:p.Val23495= | |
| XM_017004823.1:c.52101G>A (TTN) | XP_016860312.1:p.Val17367= | |
| XM_024453094.1:c.73596G>A (TTN) | XP_024308862.1:p.Val24532= | |
| XM_024453095.1:c.73593G>A (TTN) | XP_024308863.1:p.Val24531= | |
| XM_024453096.1:c.73026G>A (TTN) | XP_024308864.1:p.Val24342= | |
| XM_024453097.1:c.70368G>A (TTN) | XP_024308865.1:p.Val23456= | |
| XM_024453098.1:c.70287G>A (TTN) | XP_024308866.1:p.Val23429= | |
| XM_024453099.1:c.52050G>A (TTN) | XP_024308867.1:p.Val17350= | |
| XM_024453100.1:c.41904G>A (TTN) | XP_024308868.1:p.Val13968= |