Linked Data
ClinVar Variation Id:
512502
dbSNP Id:
rs144731702
ExAC:
2:179425470 G / A
gnomAD v2:
2-179425470-G-A
gnomAD v3:
2-178560743-G-A
gnomAD v4:
2-178560743-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560743G>A , CM000664.2:g.178560743G>A | GRCh38 |
| NC_000002.11:g.179425470G>A , CM000664.1:g.179425470G>A | GRCh37 |
| NC_000002.10:g.179133716G>A | NCBI36 |
| NG_011618.3:g.275060C>T , LRG_391:g.275060C>T | |
| NG_051363.1:g.42917G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77685C>T (TTN) | ENSP00000343764.6:p.Leu25895= | |
| ENST00000342175.11:c.58770C>T (TTN) | ENSP00000340554.6:p.Leu19590= | |
| ENST00000359218.10:c.58569C>T (TTN) | ENSP00000352154.5:p.Leu19523= | |
| ENST00000342175.10:c.58770C>T (TTN) | ENSP00000340554.6:p.Leu19590= | |
| ENST00000342992.10:c.77685C>T (TTN) | ENSP00000343764.6:p.Leu25895= | |
| ENST00000359218.9:c.58569C>T (TTN) | ENSP00000352154.5:p.Leu19523= | |
| ENST00000460472.6:c.58194C>T (TTN) | ENSP00000434586.1:p.Leu19398= | |
| ENST00000589042.5:c.85389C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu28463= | |
| ENST00000591111.5:c.80466C>T (TTN) | ENSP00000465570.1:p.Leu26822= | |
| ENST00000615779.4:c.80466C>T (TTN) | ENSP00000483597.1:p.Leu26822= | |
| NM_001256850.1:c.80466C>T (TTN) | NP_001243779.1:p.Leu26822= | |
| NM_001267550.2:c.85389C>T (TTN) MANE Select | NP_001254479.2:p.Leu28463= | |
| NM_003319.4:c.58194C>T (TTN) | NP_003310.4:p.Leu19398= | |
| NM_133378.4:c.77685C>T (TTN) | NP_596869.4:p.Leu25895= | |
| NM_133432.3:c.58569C>T (TTN) | NP_597676.3:p.Leu19523= | |
| NM_133437.4:c.58770C>T (TTN) | NP_597681.4:p.Leu19590= | |
| NR_038271.1:n.447-10557G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+18382G>A (TTN-AS1) | ||
| XM_011511729.1:c.84486C>T (TTN) | XP_011510031.1:p.Leu28162= | |
| XM_011511730.1:c.58380C>T (TTN) | XP_011510032.1:p.Leu19460= | |
| XM_011511731.1:c.58239C>T (TTN) | XP_011510033.1:p.Leu19413= | |
| XM_017004819.1:c.84282C>T (TTN) | XP_016860308.1:p.Leu28094= | |
| XM_017004820.1:c.79680C>T (TTN) | XP_016860309.1:p.Leu26560= | |
| XM_017004821.1:c.79677C>T (TTN) | XP_016860310.1:p.Leu26559= | |
| XM_017004822.1:c.76719C>T (TTN) | XP_016860311.1:p.Leu25573= | |
| XM_017004823.1:c.58335C>T (TTN) | XP_016860312.1:p.Leu19445= | |
| XM_024453094.1:c.79830C>T (TTN) | XP_024308862.1:p.Leu26610= | |
| XM_024453095.1:c.79827C>T (TTN) | XP_024308863.1:p.Leu26609= | |
| XM_024453096.1:c.79260C>T (TTN) | XP_024308864.1:p.Leu26420= | |
| XM_024453097.1:c.76602C>T (TTN) | XP_024308865.1:p.Leu25534= | |
| XM_024453098.1:c.76521C>T (TTN) | XP_024308866.1:p.Leu25507= | |
| XM_024453099.1:c.58284C>T (TTN) | XP_024308867.1:p.Leu19428= | |
| XM_024453100.1:c.48138C>T (TTN) | XP_024308868.1:p.Leu16046= |