Linked Data
ClinVar Variation Id:
515145
dbSNP Id:
rs587780495
ExAC:
2:179404186 C / T
gnomAD v2:
2-179404186-C-T
gnomAD v3:
2-178539459-C-T
gnomAD v4:
2-178539459-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539459C>T , CM000664.2:g.178539459C>T | GRCh38 |
| NC_000002.11:g.179404186C>T , CM000664.1:g.179404186C>T | GRCh37 |
| NC_000002.10:g.179112432C>T | NCBI36 |
| NG_011618.3:g.296344G>A , LRG_391:g.296344G>A | |
| NG_051363.1:g.21633C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.90902G>A (TTN) | ENSP00000343764.6:p.Arg30301His | |
| ENST00000342175.11:c.71987G>A (TTN) | ENSP00000340554.6:p.Arg23996His | |
| ENST00000359218.10:c.71786G>A (TTN) | ENSP00000352154.5:p.Arg23929His | |
| ENST00000342175.10:c.71987G>A (TTN) | ENSP00000340554.6:p.Arg23996His | |
| ENST00000342992.10:c.90902G>A (TTN) | ENSP00000343764.6:p.Arg30301His | |
| ENST00000359218.9:c.71786G>A (TTN) | ENSP00000352154.5:p.Arg23929His | |
| ENST00000460472.6:c.71411G>A (TTN) | ENSP00000434586.1:p.Arg23804His | |
| ENST00000589042.5:c.98606G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg32869His | |
| ENST00000591111.5:c.93683G>A (TTN) | ENSP00000465570.1:p.Arg31228His | |
| ENST00000615779.4:c.93683G>A (TTN) | ENSP00000483597.1:p.Arg31228His | |
| NM_001256850.1:c.93683G>A (TTN) | NP_001243779.1:p.Arg31228His | |
| NM_001267550.2:c.98606G>A (TTN) MANE Select | NP_001254479.2:p.Arg32869His | |
| NM_003319.4:c.71411G>A (TTN) | NP_003310.4:p.Arg23804His | |
| NM_133378.4:c.90902G>A (TTN) | NP_596869.4:p.Arg30301His | |
| NM_133432.3:c.71786G>A (TTN) | NP_597676.3:p.Arg23929His | |
| NM_133437.4:c.71987G>A (TTN) | NP_597681.4:p.Arg23996His | |
| NR_038271.1:n.446+15823C>T (TTN-AS1) | ||
| NR_038272.1:n.1409C>T (TTN-AS1) | ||
| XM_011511729.1:c.97703G>A (TTN) | XP_011510031.1:p.Arg32568His | |
| XM_011511730.1:c.71597G>A (TTN) | XP_011510032.1:p.Arg23866His | |
| XM_011511731.1:c.71456G>A (TTN) | XP_011510033.1:p.Arg23819His | |
| XM_017004819.1:c.97499G>A (TTN) | XP_016860308.1:p.Arg32500His | |
| XM_017004820.1:c.92897G>A (TTN) | XP_016860309.1:p.Arg30966His | |
| XM_017004821.1:c.92894G>A (TTN) | XP_016860310.1:p.Arg30965His | |
| XM_017004822.1:c.89936G>A (TTN) | XP_016860311.1:p.Arg29979His | |
| XM_017004823.1:c.71552G>A (TTN) | XP_016860312.1:p.Arg23851His | |
| XM_024453094.1:c.93047G>A (TTN) | XP_024308862.1:p.Arg31016His | |
| XM_024453095.1:c.93044G>A (TTN) | XP_024308863.1:p.Arg31015His | |
| XM_024453096.1:c.92477G>A (TTN) | XP_024308864.1:p.Arg30826His | |
| XM_024453097.1:c.89819G>A (TTN) | XP_024308865.1:p.Arg29940His | |
| XM_024453098.1:c.89738G>A (TTN) | XP_024308866.1:p.Arg29913His | |
| XM_024453099.1:c.71501G>A (TTN) | XP_024308867.1:p.Arg23834His | |
| XM_024453100.1:c.61355G>A (TTN) | XP_024308868.1:p.Arg20452His |