Linked Data
ClinVar Variation Id:
137809
dbSNP Id:
rs369223412
ExAC:
2:179427726 C / T
gnomAD v2:
2-179427726-C-T
gnomAD v3:
2-178562999-C-T
gnomAD v4:
2-178562999-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562999C>T , CM000664.2:g.178562999C>T | GRCh38 |
| NC_000002.11:g.179427726C>T , CM000664.1:g.179427726C>T | GRCh37 |
| NC_000002.10:g.179135972C>T | NCBI36 |
| NG_011618.3:g.272804G>A , LRG_391:g.272804G>A | |
| NG_051363.1:g.45173C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75429G>A (TTN) | ENSP00000343764.6:p.Lys25143= | |
| ENST00000342175.11:c.56514G>A (TTN) | ENSP00000340554.6:p.Lys18838= | |
| ENST00000359218.10:c.56313G>A (TTN) | ENSP00000352154.5:p.Lys18771= | |
| ENST00000342175.10:c.56514G>A (TTN) | ENSP00000340554.6:p.Lys18838= | |
| ENST00000342992.10:c.75429G>A (TTN) | ENSP00000343764.6:p.Lys25143= | |
| ENST00000359218.9:c.56313G>A (TTN) | ENSP00000352154.5:p.Lys18771= | |
| ENST00000460472.6:c.55938G>A (TTN) | ENSP00000434586.1:p.Lys18646= | |
| ENST00000589042.5:c.83133G>A (TTN) MANE Select | ENSP00000467141.1:p.Lys27711= | |
| ENST00000591111.5:c.78210G>A (TTN) | ENSP00000465570.1:p.Lys26070= | |
| ENST00000615779.4:c.78210G>A (TTN) | ENSP00000483597.1:p.Lys26070= | |
| NM_001256850.1:c.78210G>A (TTN) | NP_001243779.1:p.Lys26070= | |
| NM_001267550.2:c.83133G>A (TTN) MANE Select | NP_001254479.2:p.Lys27711= | |
| NM_003319.4:c.55938G>A (TTN) | NP_003310.4:p.Lys18646= | |
| NM_133378.4:c.75429G>A (TTN) | NP_596869.4:p.Lys25143= | |
| NM_133432.3:c.56313G>A (TTN) | NP_597676.3:p.Lys18771= | |
| NM_133437.4:c.56514G>A (TTN) | NP_597681.4:p.Lys18838= | |
| NR_038271.1:n.447-8301C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-19573C>T (TTN-AS1) | ||
| XM_011511729.1:c.82230G>A (TTN) | XP_011510031.1:p.Lys27410= | |
| XM_011511730.1:c.56124G>A (TTN) | XP_011510032.1:p.Lys18708= | |
| XM_011511731.1:c.55983G>A (TTN) | XP_011510033.1:p.Lys18661= | |
| XM_017004819.1:c.82026G>A (TTN) | XP_016860308.1:p.Lys27342= | |
| XM_017004820.1:c.77424G>A (TTN) | XP_016860309.1:p.Lys25808= | |
| XM_017004821.1:c.77421G>A (TTN) | XP_016860310.1:p.Lys25807= | |
| XM_017004822.1:c.74463G>A (TTN) | XP_016860311.1:p.Lys24821= | |
| XM_017004823.1:c.56079G>A (TTN) | XP_016860312.1:p.Lys18693= | |
| XM_024453094.1:c.77574G>A (TTN) | XP_024308862.1:p.Lys25858= | |
| XM_024453095.1:c.77571G>A (TTN) | XP_024308863.1:p.Lys25857= | |
| XM_024453096.1:c.77004G>A (TTN) | XP_024308864.1:p.Lys25668= | |
| XM_024453097.1:c.74346G>A (TTN) | XP_024308865.1:p.Lys24782= | |
| XM_024453098.1:c.74265G>A (TTN) | XP_024308866.1:p.Lys24755= | |
| XM_024453099.1:c.56028G>A (TTN) | XP_024308867.1:p.Lys18676= | |
| XM_024453100.1:c.45882G>A (TTN) | XP_024308868.1:p.Lys15294= |