Linked Data
ClinVar Variation Id:
47355
ClinVar RCV Id:
RCV000040625
RCV000618047
RCV000714098
RCV001086724
RCV001130893
RCV001130895
RCV001130892
RCV001130891
RCV001130894
RCV003486599
dbSNP Id:
rs55857909
ExAC:
2:179433654 C / T
gnomAD v2:
2-179433654-C-T
gnomAD v3:
2-178568927-C-T
gnomAD v4:
2-178568927-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568927C>T , CM000664.2:g.178568927C>T | GRCh38 |
| NC_000002.11:g.179433654C>T , CM000664.1:g.179433654C>T | GRCh37 |
| NC_000002.10:g.179141900C>T | NCBI36 |
| NG_011618.3:g.266876G>A , LRG_391:g.266876G>A | |
| NG_051363.1:g.51101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69501G>A (TTN) | ENSP00000343764.6:p.Val23167= | |
| ENST00000342175.11:c.50586G>A (TTN) | ENSP00000340554.6:p.Val16862= | |
| ENST00000359218.10:c.50385G>A (TTN) | ENSP00000352154.5:p.Val16795= | |
| ENST00000342175.10:c.50586G>A (TTN) | ENSP00000340554.6:p.Val16862= | |
| ENST00000342992.10:c.69501G>A (TTN) | ENSP00000343764.6:p.Val23167= | |
| ENST00000359218.9:c.50385G>A (TTN) | ENSP00000352154.5:p.Val16795= | |
| ENST00000460472.6:c.50010G>A (TTN) | ENSP00000434586.1:p.Val16670= | |
| ENST00000589042.5:c.77205G>A (TTN) MANE Select | ENSP00000467141.1:p.Val25735= | |
| ENST00000591111.5:c.72282G>A (TTN) | ENSP00000465570.1:p.Val24094= | |
| ENST00000615779.4:c.72282G>A (TTN) | ENSP00000483597.1:p.Val24094= | |
| NM_001256850.1:c.72282G>A (TTN) | NP_001243779.1:p.Val24094= | |
| NM_001267550.2:c.77205G>A (TTN) MANE Select | NP_001254479.2:p.Val25735= | |
| NM_003319.4:c.50010G>A (TTN) | NP_003310.4:p.Val16670= | |
| NM_133378.4:c.69501G>A (TTN) | NP_596869.4:p.Val23167= | |
| NM_133432.3:c.50385G>A (TTN) | NP_597676.3:p.Val16795= | |
| NM_133437.4:c.50586G>A (TTN) | NP_597681.4:p.Val16862= | |
| NR_038271.1:n.447-2373C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-13645C>T (TTN-AS1) | ||
| XM_011511729.1:c.76302G>A (TTN) | XP_011510031.1:p.Val25434= | |
| XM_011511730.1:c.50196G>A (TTN) | XP_011510032.1:p.Val16732= | |
| XM_011511731.1:c.50055G>A (TTN) | XP_011510033.1:p.Val16685= | |
| XM_017004819.1:c.76098G>A (TTN) | XP_016860308.1:p.Val25366= | |
| XM_017004820.1:c.71496G>A (TTN) | XP_016860309.1:p.Val23832= | |
| XM_017004821.1:c.71493G>A (TTN) | XP_016860310.1:p.Val23831= | |
| XM_017004822.1:c.68535G>A (TTN) | XP_016860311.1:p.Val22845= | |
| XM_017004823.1:c.50151G>A (TTN) | XP_016860312.1:p.Val16717= | |
| XM_024453094.1:c.71646G>A (TTN) | XP_024308862.1:p.Val23882= | |
| XM_024453095.1:c.71643G>A (TTN) | XP_024308863.1:p.Val23881= | |
| XM_024453096.1:c.71076G>A (TTN) | XP_024308864.1:p.Val23692= | |
| XM_024453097.1:c.68418G>A (TTN) | XP_024308865.1:p.Val22806= | |
| XM_024453098.1:c.68337G>A (TTN) | XP_024308866.1:p.Val22779= | |
| XM_024453099.1:c.50100G>A (TTN) | XP_024308867.1:p.Val16700= | |
| XM_024453100.1:c.39954G>A (TTN) | XP_024308868.1:p.Val13318= |