Linked Data
ClinVar Variation Id:
165709
dbSNP Id:
rs727503542
ExAC:
2:179410280 G / A
gnomAD v2:
2-179410280-G-A
gnomAD v3:
2-178545553-G-A
gnomAD v4:
2-178545553-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178545553G>A , CM000664.2:g.178545553G>A | GRCh38 |
| NC_000002.11:g.179410280G>A , CM000664.1:g.179410280G>A | GRCh37 |
| NC_000002.10:g.179118526G>A | NCBI36 |
| NG_011618.3:g.290250C>T , LRG_391:g.290250C>T | |
| NG_051363.1:g.27727G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87853C>T (TTN) | ENSP00000343764.6:p.Arg29285Cys | |
| ENST00000342175.11:c.68938C>T (TTN) | ENSP00000340554.6:p.Arg22980Cys | |
| ENST00000359218.10:c.68737C>T (TTN) | ENSP00000352154.5:p.Arg22913Cys | |
| ENST00000342175.10:c.68938C>T (TTN) | ENSP00000340554.6:p.Arg22980Cys | |
| ENST00000342992.10:c.87853C>T (TTN) | ENSP00000343764.6:p.Arg29285Cys | |
| ENST00000359218.9:c.68737C>T (TTN) | ENSP00000352154.5:p.Arg22913Cys | |
| ENST00000460472.6:c.68362C>T (TTN) | ENSP00000434586.1:p.Arg22788Cys | |
| ENST00000589042.5:c.95557C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg31853Cys | |
| ENST00000591111.5:c.90634C>T (TTN) | ENSP00000465570.1:p.Arg30212Cys | |
| ENST00000615779.4:c.90634C>T (TTN) | ENSP00000483597.1:p.Arg30212Cys | |
| NM_001256850.1:c.90634C>T (TTN) | NP_001243779.1:p.Arg30212Cys | |
| NM_001267550.2:c.95557C>T (TTN) MANE Select | NP_001254479.2:p.Arg31853Cys | |
| NM_003319.4:c.68362C>T (TTN) | NP_003310.4:p.Arg22788Cys | |
| NM_133378.4:c.87853C>T (TTN) | NP_596869.4:p.Arg29285Cys | |
| NM_133432.3:c.68737C>T (TTN) | NP_597676.3:p.Arg22913Cys | |
| NM_133437.4:c.68938C>T (TTN) | NP_597681.4:p.Arg22980Cys | |
| NR_038271.1:n.446+21917G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+3192G>A (TTN-AS1) | ||
| XM_011511729.1:c.94654C>T (TTN) | XP_011510031.1:p.Arg31552Cys | |
| XM_011511730.1:c.68548C>T (TTN) | XP_011510032.1:p.Arg22850Cys | |
| XM_011511731.1:c.68407C>T (TTN) | XP_011510033.1:p.Arg22803Cys | |
| XM_017004819.1:c.94450C>T (TTN) | XP_016860308.1:p.Arg31484Cys | |
| XM_017004820.1:c.89848C>T (TTN) | XP_016860309.1:p.Arg29950Cys | |
| XM_017004821.1:c.89845C>T (TTN) | XP_016860310.1:p.Arg29949Cys | |
| XM_017004822.1:c.86887C>T (TTN) | XP_016860311.1:p.Arg28963Cys | |
| XM_017004823.1:c.68503C>T (TTN) | XP_016860312.1:p.Arg22835Cys | |
| XM_024453094.1:c.89998C>T (TTN) | XP_024308862.1:p.Arg30000Cys | |
| XM_024453095.1:c.89995C>T (TTN) | XP_024308863.1:p.Arg29999Cys | |
| XM_024453096.1:c.89428C>T (TTN) | XP_024308864.1:p.Arg29810Cys | |
| XM_024453097.1:c.86770C>T (TTN) | XP_024308865.1:p.Arg28924Cys | |
| XM_024453098.1:c.86689C>T (TTN) | XP_024308866.1:p.Arg28897Cys | |
| XM_024453099.1:c.68452C>T (TTN) | XP_024308867.1:p.Arg22818Cys | |
| XM_024453100.1:c.58306C>T (TTN) | XP_024308868.1:p.Arg19436Cys |