Linked Data
ClinVar Variation Id:
848708
dbSNP Id:
rs371304729
ExAC:
2:179395125 C / G
gnomAD v2:
2-179395125-C-G
gnomAD v3:
2-178530398-C-G
gnomAD v4:
2-178530398-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530398C>G , CM000664.2:g.178530398C>G | GRCh38 |
| NC_000002.11:g.179395125C>G , CM000664.1:g.179395125C>G | GRCh37 |
| NC_000002.10:g.179103371C>G | NCBI36 |
| NG_011618.3:g.305405G>C , LRG_391:g.305405G>C | |
| NG_051363.1:g.12572C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.98513G>C (TTN) | ENSP00000343764.6:p.Arg32838Thr | |
| ENST00000342175.11:c.79598G>C (TTN) | ENSP00000340554.6:p.Arg26533Thr | |
| ENST00000359218.10:c.79397G>C (TTN) | ENSP00000352154.5:p.Arg26466Thr | |
| ENST00000342175.10:c.79598G>C (TTN) | ENSP00000340554.6:p.Arg26533Thr | |
| ENST00000342992.10:c.98513G>C (TTN) | ENSP00000343764.6:p.Arg32838Thr | |
| ENST00000359218.9:c.79397G>C (TTN) | ENSP00000352154.5:p.Arg26466Thr | |
| ENST00000460472.6:c.79022G>C (TTN) | ENSP00000434586.1:p.Arg26341Thr | |
| ENST00000589042.5:c.106217G>C (TTN) MANE Select | ENSP00000467141.1:p.Arg35406Thr | |
| ENST00000591111.5:c.101294G>C (TTN) | ENSP00000465570.1:p.Arg33765Thr | |
| ENST00000615779.4:c.101294G>C (TTN) | ENSP00000483597.1:p.Arg33765Thr | |
| NM_001256850.1:c.101294G>C (TTN) | NP_001243779.1:p.Arg33765Thr | |
| NM_001267550.2:c.106217G>C (TTN) MANE Select | NP_001254479.2:p.Arg35406Thr | |
| NM_003319.4:c.79022G>C (TTN) | NP_003310.4:p.Arg26341Thr | |
| NM_133378.4:c.98513G>C (TTN) | NP_596869.4:p.Arg32838Thr | |
| NM_133432.3:c.79397G>C (TTN) | NP_597676.3:p.Arg26466Thr | |
| NM_133437.4:c.79598G>C (TTN) | NP_597681.4:p.Arg26533Thr | |
| NR_038271.1:n.446+6762C>G (TTN-AS1) | ||
| NR_038272.1:n.220-5334C>G (TTN-AS1) | ||
| XM_011511729.1:c.105314G>C (TTN) | XP_011510031.1:p.Arg35105Thr | |
| XM_011511730.1:c.79208G>C (TTN) | XP_011510032.1:p.Arg26403Thr | |
| XM_011511731.1:c.79067G>C (TTN) | XP_011510033.1:p.Arg26356Thr | |
| XM_017004819.1:c.105110G>C (TTN) | XP_016860308.1:p.Arg35037Thr | |
| XM_017004820.1:c.100508G>C (TTN) | XP_016860309.1:p.Arg33503Thr | |
| XM_017004821.1:c.100505G>C (TTN) | XP_016860310.1:p.Arg33502Thr | |
| XM_017004822.1:c.97547G>C (TTN) | XP_016860311.1:p.Arg32516Thr | |
| XM_017004823.1:c.79163G>C (TTN) | XP_016860312.1:p.Arg26388Thr | |
| XM_024453094.1:c.100658G>C (TTN) | XP_024308862.1:p.Arg33553Thr | |
| XM_024453095.1:c.100655G>C (TTN) | XP_024308863.1:p.Arg33552Thr | |
| XM_024453096.1:c.100088G>C (TTN) | XP_024308864.1:p.Arg33363Thr | |
| XM_024453097.1:c.97430G>C (TTN) | XP_024308865.1:p.Arg32477Thr | |
| XM_024453098.1:c.97349G>C (TTN) | XP_024308866.1:p.Arg32450Thr | |
| XM_024453099.1:c.79112G>C (TTN) | XP_024308867.1:p.Arg26371Thr | |
| XM_024453100.1:c.68966G>C (TTN) | XP_024308868.1:p.Arg22989Thr |