Linked Data
ClinVar Variation Id:
165886
dbSNP Id:
rs374656017
ExAC:
2:179446405 C / T
gnomAD v2:
2-179446405-C-T
gnomAD v3:
2-178581678-C-T
gnomAD v4:
2-178581678-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178581678C>T , CM000664.2:g.178581678C>T | GRCh38 |
| NC_000002.11:g.179446405C>T , CM000664.1:g.179446405C>T | GRCh37 |
| NC_000002.10:g.179154651C>T | NCBI36 |
| NG_011618.3:g.254125G>A , LRG_391:g.254125G>A | |
| NG_051363.1:g.63852C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.58886G>A (TTN) | ENSP00000343764.6:p.Arg19629Gln | |
| ENST00000342175.11:c.39971G>A (TTN) | ENSP00000340554.6:p.Arg13324Gln | |
| ENST00000359218.10:c.39770G>A (TTN) | ENSP00000352154.5:p.Arg13257Gln | |
| ENST00000342175.10:c.39971G>A (TTN) | ENSP00000340554.6:p.Arg13324Gln | |
| ENST00000342992.10:c.58886G>A (TTN) | ENSP00000343764.6:p.Arg19629Gln | |
| ENST00000359218.9:c.39770G>A (TTN) | ENSP00000352154.5:p.Arg13257Gln | |
| ENST00000460472.6:c.39395G>A (TTN) | ENSP00000434586.1:p.Arg13132Gln | |
| ENST00000589042.5:c.66590G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg22197Gln | |
| ENST00000591111.5:c.61667G>A (TTN) | ENSP00000465570.1:p.Arg20556Gln | |
| ENST00000615779.4:c.61667G>A (TTN) | ENSP00000483597.1:p.Arg20556Gln | |
| NM_001256850.1:c.61667G>A (TTN) | NP_001243779.1:p.Arg20556Gln | |
| NM_001267550.2:c.66590G>A (TTN) MANE Select | NP_001254479.2:p.Arg22197Gln | |
| NM_003319.4:c.39395G>A (TTN) | NP_003310.4:p.Arg13132Gln | |
| NM_133378.4:c.58886G>A (TTN) | NP_596869.4:p.Arg19629Gln | |
| NM_133432.3:c.39770G>A (TTN) | NP_597676.3:p.Arg13257Gln | |
| NM_133437.4:c.39971G>A (TTN) | NP_597681.4:p.Arg13324Gln | |
| NR_038271.1:n.596+10229C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-894C>T (TTN-AS1) | ||
| XM_011511729.1:c.65687G>A (TTN) | XP_011510031.1:p.Arg21896Gln | |
| XM_011511730.1:c.39581G>A (TTN) | XP_011510032.1:p.Arg13194Gln | |
| XM_011511731.1:c.39440G>A (TTN) | XP_011510033.1:p.Arg13147Gln | |
| XM_017004819.1:c.65483G>A (TTN) | XP_016860308.1:p.Arg21828Gln | |
| XM_017004820.1:c.60881G>A (TTN) | XP_016860309.1:p.Arg20294Gln | |
| XM_017004821.1:c.60878G>A (TTN) | XP_016860310.1:p.Arg20293Gln | |
| XM_017004822.1:c.57920G>A (TTN) | XP_016860311.1:p.Arg19307Gln | |
| XM_017004823.1:c.39536G>A (TTN) | XP_016860312.1:p.Arg13179Gln | |
| XM_024453094.1:c.61031G>A (TTN) | XP_024308862.1:p.Arg20344Gln | |
| XM_024453095.1:c.61028G>A (TTN) | XP_024308863.1:p.Arg20343Gln | |
| XM_024453096.1:c.60461G>A (TTN) | XP_024308864.1:p.Arg20154Gln | |
| XM_024453097.1:c.57803G>A (TTN) | XP_024308865.1:p.Arg19268Gln | |
| XM_024453098.1:c.57722G>A (TTN) | XP_024308866.1:p.Arg19241Gln | |
| XM_024453099.1:c.39485G>A (TTN) | XP_024308867.1:p.Arg13162Gln | |
| XM_024453100.1:c.29339G>A (TTN) | XP_024308868.1:p.Arg9780Gln |