Linked Data
ClinVar Variation Id:
165982
dbSNP Id:
rs200100660
ExAC:
2:179470001 C / T
gnomAD v2:
2-179470001-C-T
gnomAD v3:
2-178605274-C-T
gnomAD v4:
2-178605274-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178605274C>T , CM000664.2:g.178605274C>T | GRCh38 |
| NC_000002.11:g.179470001C>T , CM000664.1:g.179470001C>T | GRCh37 |
| NC_000002.10:g.179178246C>T | NCBI36 |
| NG_011618.3:g.230529G>A , LRG_391:g.230529G>A | |
| NG_051363.1:g.87448C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46199G>A (TTN) | ENSP00000343764.6:p.Arg15400His | |
| ENST00000342175.11:c.27284G>A (TTN) | ENSP00000340554.6:p.Arg9095His | |
| ENST00000359218.10:c.27083G>A (TTN) | ENSP00000352154.5:p.Arg9028His | |
| ENST00000342175.10:c.27284G>A (TTN) | ENSP00000340554.6:p.Arg9095His | |
| ENST00000342992.10:c.46199G>A (TTN) | ENSP00000343764.6:p.Arg15400His | |
| ENST00000359218.9:c.27083G>A (TTN) | ENSP00000352154.5:p.Arg9028His | |
| ENST00000460472.6:c.26708G>A (TTN) | ENSP00000434586.1:p.Arg8903His | |
| ENST00000589042.5:c.53903G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg17968His | |
| ENST00000591111.5:c.48980G>A (TTN) | ENSP00000465570.1:p.Arg16327His | |
| ENST00000615779.4:c.48980G>A (TTN) | ENSP00000483597.1:p.Arg16327His | |
| NM_001256850.1:c.48980G>A (TTN) | NP_001243779.1:p.Arg16327His | |
| NM_001267550.2:c.53903G>A (TTN) MANE Select | NP_001254479.2:p.Arg17968His | |
| NM_003319.4:c.26708G>A (TTN) | NP_003310.4:p.Arg8903His | |
| NM_133378.4:c.46199G>A (TTN) | NP_596869.4:p.Arg15400His | |
| NM_133432.3:c.27083G>A (TTN) | NP_597676.3:p.Arg9028His | |
| NM_133437.4:c.27284G>A (TTN) | NP_597681.4:p.Arg9095His | |
| NR_038271.1:n.683-2893C>T (TTN-AS1) | ||
| NR_038272.1:n.4461C>T (TTN-AS1) | ||
| XM_011511729.1:c.53000G>A (TTN) | XP_011510031.1:p.Arg17667His | |
| XM_011511730.1:c.26894G>A (TTN) | XP_011510032.1:p.Arg8965His | |
| XM_011511731.1:c.26753G>A (TTN) | XP_011510033.1:p.Arg8918His | |
| XM_017004819.1:c.52796G>A (TTN) | XP_016860308.1:p.Arg17599His | |
| XM_017004820.1:c.48194G>A (TTN) | XP_016860309.1:p.Arg16065His | |
| XM_017004821.1:c.48191G>A (TTN) | XP_016860310.1:p.Arg16064His | |
| XM_017004822.1:c.45233G>A (TTN) | XP_016860311.1:p.Arg15078His | |
| XM_017004823.1:c.26849G>A (TTN) | XP_016860312.1:p.Arg8950His | |
| XM_024453094.1:c.48344G>A (TTN) | XP_024308862.1:p.Arg16115His | |
| XM_024453095.1:c.48341G>A (TTN) | XP_024308863.1:p.Arg16114His | |
| XM_024453096.1:c.47774G>A (TTN) | XP_024308864.1:p.Arg15925His | |
| XM_024453097.1:c.45116G>A (TTN) | XP_024308865.1:p.Arg15039His | |
| XM_024453098.1:c.45035G>A (TTN) | XP_024308866.1:p.Arg15012His | |
| XM_024453099.1:c.26798G>A (TTN) | XP_024308867.1:p.Arg8933His | |
| XM_024453100.1:c.16652G>A (TTN) | XP_024308868.1:p.Arg5551His |