Linked Data
ClinVar Variation Id:
413171
dbSNP Id:
rs376921740
ExAC:
2:179449400 T / C
gnomAD v2:
2-179449400-T-C
gnomAD v3:
2-178584673-T-C
gnomAD v4:
2-178584673-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584673T>C , CM000664.2:g.178584673T>C | GRCh38 |
| NC_000002.11:g.179449400T>C , CM000664.1:g.179449400T>C | GRCh37 |
| NC_000002.10:g.179157646T>C | NCBI36 |
| NG_011618.3:g.251130A>G , LRG_391:g.251130A>G | |
| NG_051363.1:g.66847T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57264A>G (TTN) | ENSP00000343764.6:p.Pro19088= | |
| ENST00000342175.11:c.38349A>G (TTN) | ENSP00000340554.6:p.Pro12783= | |
| ENST00000359218.10:c.38148A>G (TTN) | ENSP00000352154.5:p.Pro12716= | |
| ENST00000342175.10:c.38349A>G (TTN) | ENSP00000340554.6:p.Pro12783= | |
| ENST00000342992.10:c.57264A>G (TTN) | ENSP00000343764.6:p.Pro19088= | |
| ENST00000359218.9:c.38148A>G (TTN) | ENSP00000352154.5:p.Pro12716= | |
| ENST00000460472.6:c.37773A>G (TTN) | ENSP00000434586.1:p.Pro12591= | |
| ENST00000589042.5:c.64968A>G (TTN) MANE Select | ENSP00000467141.1:p.Pro21656= | |
| ENST00000591111.5:c.60045A>G (TTN) | ENSP00000465570.1:p.Pro20015= | |
| ENST00000615779.4:c.60045A>G (TTN) | ENSP00000483597.1:p.Pro20015= | |
| NM_001256850.1:c.60045A>G (TTN) | NP_001243779.1:p.Pro20015= | |
| NM_001267550.2:c.64968A>G (TTN) MANE Select | NP_001254479.2:p.Pro21656= | |
| NM_003319.4:c.37773A>G (TTN) | NP_003310.4:p.Pro12591= | |
| NM_133378.4:c.57264A>G (TTN) | NP_596869.4:p.Pro19088= | |
| NM_133432.3:c.38148A>G (TTN) | NP_597676.3:p.Pro12716= | |
| NM_133437.4:c.38349A>G (TTN) | NP_597681.4:p.Pro12783= | |
| NR_038271.1:n.597-12923T>C (TTN-AS1) | ||
| NR_038272.1:n.2868T>C (TTN-AS1) | ||
| XM_011511729.1:c.64065A>G (TTN) | XP_011510031.1:p.Pro21355= | |
| XM_011511730.1:c.37959A>G (TTN) | XP_011510032.1:p.Pro12653= | |
| XM_011511731.1:c.37818A>G (TTN) | XP_011510033.1:p.Pro12606= | |
| XM_017004819.1:c.63861A>G (TTN) | XP_016860308.1:p.Pro21287= | |
| XM_017004820.1:c.59259A>G (TTN) | XP_016860309.1:p.Pro19753= | |
| XM_017004821.1:c.59256A>G (TTN) | XP_016860310.1:p.Pro19752= | |
| XM_017004822.1:c.56298A>G (TTN) | XP_016860311.1:p.Pro18766= | |
| XM_017004823.1:c.37914A>G (TTN) | XP_016860312.1:p.Pro12638= | |
| XM_024453094.1:c.59409A>G (TTN) | XP_024308862.1:p.Pro19803= | |
| XM_024453095.1:c.59406A>G (TTN) | XP_024308863.1:p.Pro19802= | |
| XM_024453096.1:c.58839A>G (TTN) | XP_024308864.1:p.Pro19613= | |
| XM_024453097.1:c.56181A>G (TTN) | XP_024308865.1:p.Pro18727= | |
| XM_024453098.1:c.56100A>G (TTN) | XP_024308866.1:p.Pro18700= | |
| XM_024453099.1:c.37863A>G (TTN) | XP_024308867.1:p.Pro12621= | |
| XM_024453100.1:c.27717A>G (TTN) | XP_024308868.1:p.Pro9239= |