Linked Data
ClinVar Variation Id:
180010
dbSNP Id:
rs727505284
ExAC:
2:179430143 G / A
gnomAD v2:
2-179430143-G-A
gnomAD v3:
2-178565416-G-A
gnomAD v4:
2-178565416-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565416G>A , CM000664.2:g.178565416G>A | GRCh38 |
| NC_000002.11:g.179430143G>A , CM000664.1:g.179430143G>A | GRCh37 |
| NC_000002.10:g.179138389G>A | NCBI36 |
| NG_011618.3:g.270387C>T , LRG_391:g.270387C>T | |
| NG_051363.1:g.47590G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73012C>T (TTN) | ENSP00000343764.6:p.Arg24338Ter | |
| ENST00000342175.11:c.54097C>T (TTN) | ENSP00000340554.6:p.Arg18033Ter | |
| ENST00000359218.10:c.53896C>T (TTN) | ENSP00000352154.5:p.Arg17966Ter | |
| ENST00000342175.10:c.54097C>T (TTN) | ENSP00000340554.6:p.Arg18033Ter | |
| ENST00000342992.10:c.73012C>T (TTN) | ENSP00000343764.6:p.Arg24338Ter | |
| ENST00000359218.9:c.53896C>T (TTN) | ENSP00000352154.5:p.Arg17966Ter | |
| ENST00000460472.6:c.53521C>T (TTN) | ENSP00000434586.1:p.Arg17841Ter | |
| ENST00000589042.5:c.80716C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg26906Ter | |
| ENST00000591111.5:c.75793C>T (TTN) | ENSP00000465570.1:p.Arg25265Ter | |
| ENST00000615779.4:c.75793C>T (TTN) | ENSP00000483597.1:p.Arg25265Ter | |
| NM_001256850.1:c.75793C>T (TTN) | NP_001243779.1:p.Arg25265Ter | |
| NM_001267550.2:c.80716C>T (TTN) MANE Select | NP_001254479.2:p.Arg26906Ter | |
| NM_003319.4:c.53521C>T (TTN) | NP_003310.4:p.Arg17841Ter | |
| NM_133378.4:c.73012C>T (TTN) | NP_596869.4:p.Arg24338Ter | |
| NM_133432.3:c.53896C>T (TTN) | NP_597676.3:p.Arg17966Ter | |
| NM_133437.4:c.54097C>T (TTN) | NP_597681.4:p.Arg18033Ter | |
| NR_038271.1:n.447-5884G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-17156G>A (TTN-AS1) | ||
| XM_011511729.1:c.79813C>T (TTN) | XP_011510031.1:p.Arg26605Ter | |
| XM_011511730.1:c.53707C>T (TTN) | XP_011510032.1:p.Arg17903Ter | |
| XM_011511731.1:c.53566C>T (TTN) | XP_011510033.1:p.Arg17856Ter | |
| XM_017004819.1:c.79609C>T (TTN) | XP_016860308.1:p.Arg26537Ter | |
| XM_017004820.1:c.75007C>T (TTN) | XP_016860309.1:p.Arg25003Ter | |
| XM_017004821.1:c.75004C>T (TTN) | XP_016860310.1:p.Arg25002Ter | |
| XM_017004822.1:c.72046C>T (TTN) | XP_016860311.1:p.Arg24016Ter | |
| XM_017004823.1:c.53662C>T (TTN) | XP_016860312.1:p.Arg17888Ter | |
| XM_024453094.1:c.75157C>T (TTN) | XP_024308862.1:p.Arg25053Ter | |
| XM_024453095.1:c.75154C>T (TTN) | XP_024308863.1:p.Arg25052Ter | |
| XM_024453096.1:c.74587C>T (TTN) | XP_024308864.1:p.Arg24863Ter | |
| XM_024453097.1:c.71929C>T (TTN) | XP_024308865.1:p.Arg23977Ter | |
| XM_024453098.1:c.71848C>T (TTN) | XP_024308866.1:p.Arg23950Ter | |
| XM_024453099.1:c.53611C>T (TTN) | XP_024308867.1:p.Arg17871Ter | |
| XM_024453100.1:c.43465C>T (TTN) | XP_024308868.1:p.Arg14489Ter |