Linked Data
ClinVar Variation Id:
203073
dbSNP Id:
rs544590023
ExAC:
2:179397663 T / C
gnomAD v2:
2-179397663-T-C
gnomAD v3:
2-178532936-T-C
gnomAD v4:
2-178532936-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532936T>C , CM000664.2:g.178532936T>C | GRCh38 |
| NC_000002.11:g.179397663T>C , CM000664.1:g.179397663T>C | GRCh37 |
| NC_000002.10:g.179105909T>C | NCBI36 |
| NG_011618.3:g.302867A>G , LRG_391:g.302867A>G | |
| NG_051363.1:g.15110T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95975A>G (TTN) | ENSP00000343764.6:p.Lys31992Arg | |
| ENST00000342175.11:c.77060A>G (TTN) | ENSP00000340554.6:p.Lys25687Arg | |
| ENST00000359218.10:c.76859A>G (TTN) | ENSP00000352154.5:p.Lys25620Arg | |
| ENST00000342175.10:c.77060A>G (TTN) | ENSP00000340554.6:p.Lys25687Arg | |
| ENST00000342992.10:c.95975A>G (TTN) | ENSP00000343764.6:p.Lys31992Arg | |
| ENST00000359218.9:c.76859A>G (TTN) | ENSP00000352154.5:p.Lys25620Arg | |
| ENST00000460472.6:c.76484A>G (TTN) | ENSP00000434586.1:p.Lys25495Arg | |
| ENST00000589042.5:c.103679A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys34560Arg | |
| ENST00000591111.5:c.98756A>G (TTN) | ENSP00000465570.1:p.Lys32919Arg | |
| ENST00000615779.4:c.98756A>G (TTN) | ENSP00000483597.1:p.Lys32919Arg | |
| NM_001256850.1:c.98756A>G (TTN) | NP_001243779.1:p.Lys32919Arg | |
| NM_001267550.2:c.103679A>G (TTN) MANE Select | NP_001254479.2:p.Lys34560Arg | |
| NM_003319.4:c.76484A>G (TTN) | NP_003310.4:p.Lys25495Arg | |
| NM_133378.4:c.95975A>G (TTN) | NP_596869.4:p.Lys31992Arg | |
| NM_133432.3:c.76859A>G (TTN) | NP_597676.3:p.Lys25620Arg | |
| NM_133437.4:c.77060A>G (TTN) | NP_597681.4:p.Lys25687Arg | |
| NR_038271.1:n.446+9300T>C (TTN-AS1) | ||
| NR_038272.1:n.220-2796T>C (TTN-AS1) | ||
| XM_011511729.1:c.102776A>G (TTN) | XP_011510031.1:p.Lys34259Arg | |
| XM_011511730.1:c.76670A>G (TTN) | XP_011510032.1:p.Lys25557Arg | |
| XM_011511731.1:c.76529A>G (TTN) | XP_011510033.1:p.Lys25510Arg | |
| XM_017004819.1:c.102572A>G (TTN) | XP_016860308.1:p.Lys34191Arg | |
| XM_017004820.1:c.97970A>G (TTN) | XP_016860309.1:p.Lys32657Arg | |
| XM_017004821.1:c.97967A>G (TTN) | XP_016860310.1:p.Lys32656Arg | |
| XM_017004822.1:c.95009A>G (TTN) | XP_016860311.1:p.Lys31670Arg | |
| XM_017004823.1:c.76625A>G (TTN) | XP_016860312.1:p.Lys25542Arg | |
| XM_024453094.1:c.98120A>G (TTN) | XP_024308862.1:p.Lys32707Arg | |
| XM_024453095.1:c.98117A>G (TTN) | XP_024308863.1:p.Lys32706Arg | |
| XM_024453096.1:c.97550A>G (TTN) | XP_024308864.1:p.Lys32517Arg | |
| XM_024453097.1:c.94892A>G (TTN) | XP_024308865.1:p.Lys31631Arg | |
| XM_024453098.1:c.94811A>G (TTN) | XP_024308866.1:p.Lys31604Arg | |
| XM_024453099.1:c.76574A>G (TTN) | XP_024308867.1:p.Lys25525Arg | |
| XM_024453100.1:c.66428A>G (TTN) | XP_024308868.1:p.Lys22143Arg |