Linked Data
ClinVar Variation Id:
203062
dbSNP Id:
rs192391568
ExAC:
2:179400129 C / T
gnomAD v2:
2-179400129-C-T
gnomAD v3:
2-178535402-C-T
gnomAD v4:
2-178535402-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535402C>T , CM000664.2:g.178535402C>T | GRCh38 |
| NC_000002.11:g.179400129C>T , CM000664.1:g.179400129C>T | GRCh37 |
| NC_000002.10:g.179108375C>T | NCBI36 |
| NG_011618.3:g.300401G>A , LRG_391:g.300401G>A | |
| NG_051363.1:g.17576C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93509G>A (TTN) | ENSP00000343764.6:p.Arg31170His | |
| ENST00000342175.11:c.74594G>A (TTN) | ENSP00000340554.6:p.Arg24865His | |
| ENST00000359218.10:c.74393G>A (TTN) | ENSP00000352154.5:p.Arg24798His | |
| ENST00000342175.10:c.74594G>A (TTN) | ENSP00000340554.6:p.Arg24865His | |
| ENST00000342992.10:c.93509G>A (TTN) | ENSP00000343764.6:p.Arg31170His | |
| ENST00000359218.9:c.74393G>A (TTN) | ENSP00000352154.5:p.Arg24798His | |
| ENST00000460472.6:c.74018G>A (TTN) | ENSP00000434586.1:p.Arg24673His | |
| ENST00000589042.5:c.101213G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg33738His | |
| ENST00000591111.5:c.96290G>A (TTN) | ENSP00000465570.1:p.Arg32097His | |
| ENST00000615779.4:c.96290G>A (TTN) | ENSP00000483597.1:p.Arg32097His | |
| NM_001256850.1:c.96290G>A (TTN) | NP_001243779.1:p.Arg32097His | |
| NM_001267550.2:c.101213G>A (TTN) MANE Select | NP_001254479.2:p.Arg33738His | |
| NM_003319.4:c.74018G>A (TTN) | NP_003310.4:p.Arg24673His | |
| NM_133378.4:c.93509G>A (TTN) | NP_596869.4:p.Arg31170His | |
| NM_133432.3:c.74393G>A (TTN) | NP_597676.3:p.Arg24798His | |
| NM_133437.4:c.74594G>A (TTN) | NP_597681.4:p.Arg24865His | |
| NR_038271.1:n.446+11766C>T (TTN-AS1) | ||
| NR_038272.1:n.220-330C>T (TTN-AS1) | ||
| XM_011511729.1:c.100310G>A (TTN) | XP_011510031.1:p.Arg33437His | |
| XM_011511730.1:c.74204G>A (TTN) | XP_011510032.1:p.Arg24735His | |
| XM_011511731.1:c.74063G>A (TTN) | XP_011510033.1:p.Arg24688His | |
| XM_017004819.1:c.100106G>A (TTN) | XP_016860308.1:p.Arg33369His | |
| XM_017004820.1:c.95504G>A (TTN) | XP_016860309.1:p.Arg31835His | |
| XM_017004821.1:c.95501G>A (TTN) | XP_016860310.1:p.Arg31834His | |
| XM_017004822.1:c.92543G>A (TTN) | XP_016860311.1:p.Arg30848His | |
| XM_017004823.1:c.74159G>A (TTN) | XP_016860312.1:p.Arg24720His | |
| XM_024453094.1:c.95654G>A (TTN) | XP_024308862.1:p.Arg31885His | |
| XM_024453095.1:c.95651G>A (TTN) | XP_024308863.1:p.Arg31884His | |
| XM_024453096.1:c.95084G>A (TTN) | XP_024308864.1:p.Arg31695His | |
| XM_024453097.1:c.92426G>A (TTN) | XP_024308865.1:p.Arg30809His | |
| XM_024453098.1:c.92345G>A (TTN) | XP_024308866.1:p.Arg30782His | |
| XM_024453099.1:c.74108G>A (TTN) | XP_024308867.1:p.Arg24703His | |
| XM_024453100.1:c.63962G>A (TTN) | XP_024308868.1:p.Arg21321His |