Linked Data
ClinVar Variation Id:
47430
ClinVar RCV Id:
RCV000040699
RCV000293712
RCV000336932
RCV000375171
RCV000335686
RCV000392066
RCV000475754
RCV000727431
RCV000852498
RCV002345323
dbSNP Id:
rs148067743
ExAC:
2:179426989 C / G
gnomAD v2:
2-179426989-C-G
gnomAD v3:
2-178562262-C-G
gnomAD v4:
2-178562262-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562262C>G , CM000664.2:g.178562262C>G | GRCh38 |
| NC_000002.11:g.179426989C>G , CM000664.1:g.179426989C>G | GRCh37 |
| NC_000002.10:g.179135235C>G | NCBI36 |
| NG_011618.3:g.273541G>C , LRG_391:g.273541G>C | |
| NG_051363.1:g.44436C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76166G>C (TTN) | ENSP00000343764.6:p.Arg25389Thr | |
| ENST00000342175.11:c.57251G>C (TTN) | ENSP00000340554.6:p.Arg19084Thr | |
| ENST00000359218.10:c.57050G>C (TTN) | ENSP00000352154.5:p.Arg19017Thr | |
| ENST00000342175.10:c.57251G>C (TTN) | ENSP00000340554.6:p.Arg19084Thr | |
| ENST00000342992.10:c.76166G>C (TTN) | ENSP00000343764.6:p.Arg25389Thr | |
| ENST00000359218.9:c.57050G>C (TTN) | ENSP00000352154.5:p.Arg19017Thr | |
| ENST00000460472.6:c.56675G>C (TTN) | ENSP00000434586.1:p.Arg18892Thr | |
| ENST00000589042.5:c.83870G>C (TTN) MANE Select | ENSP00000467141.1:p.Arg27957Thr | |
| ENST00000591111.5:c.78947G>C (TTN) | ENSP00000465570.1:p.Arg26316Thr | |
| ENST00000615779.4:c.78947G>C (TTN) | ENSP00000483597.1:p.Arg26316Thr | |
| NM_001256850.1:c.78947G>C (TTN) | NP_001243779.1:p.Arg26316Thr | |
| NM_001267550.2:c.83870G>C (TTN) MANE Select | NP_001254479.2:p.Arg27957Thr | |
| NM_003319.4:c.56675G>C (TTN) | NP_003310.4:p.Arg18892Thr | |
| NM_133378.4:c.76166G>C (TTN) | NP_596869.4:p.Arg25389Thr | |
| NM_133432.3:c.57050G>C (TTN) | NP_597676.3:p.Arg19017Thr | |
| NM_133437.4:c.57251G>C (TTN) | NP_597681.4:p.Arg19084Thr | |
| NR_038271.1:n.447-9038C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+19901C>G (TTN-AS1) | ||
| XM_011511729.1:c.82967G>C (TTN) | XP_011510031.1:p.Arg27656Thr | |
| XM_011511730.1:c.56861G>C (TTN) | XP_011510032.1:p.Arg18954Thr | |
| XM_011511731.1:c.56720G>C (TTN) | XP_011510033.1:p.Arg18907Thr | |
| XM_017004819.1:c.82763G>C (TTN) | XP_016860308.1:p.Arg27588Thr | |
| XM_017004820.1:c.78161G>C (TTN) | XP_016860309.1:p.Arg26054Thr | |
| XM_017004821.1:c.78158G>C (TTN) | XP_016860310.1:p.Arg26053Thr | |
| XM_017004822.1:c.75200G>C (TTN) | XP_016860311.1:p.Arg25067Thr | |
| XM_017004823.1:c.56816G>C (TTN) | XP_016860312.1:p.Arg18939Thr | |
| XM_024453094.1:c.78311G>C (TTN) | XP_024308862.1:p.Arg26104Thr | |
| XM_024453095.1:c.78308G>C (TTN) | XP_024308863.1:p.Arg26103Thr | |
| XM_024453096.1:c.77741G>C (TTN) | XP_024308864.1:p.Arg25914Thr | |
| XM_024453097.1:c.75083G>C (TTN) | XP_024308865.1:p.Arg25028Thr | |
| XM_024453098.1:c.75002G>C (TTN) | XP_024308866.1:p.Arg25001Thr | |
| XM_024453099.1:c.56765G>C (TTN) | XP_024308867.1:p.Arg18922Thr | |
| XM_024453100.1:c.46619G>C (TTN) | XP_024308868.1:p.Arg15540Thr |