Linked Data
ClinVar Variation Id:
290459
dbSNP Id:
rs749702063
ExAC:
2:179401846 T / C
gnomAD v2:
2-179401846-T-C
gnomAD v4:
2-178537119-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537119T>C , CM000664.2:g.178537119T>C | GRCh38 |
| NC_000002.11:g.179401846T>C , CM000664.1:g.179401846T>C | GRCh37 |
| NC_000002.10:g.179110092T>C | NCBI36 |
| NG_011618.3:g.298684A>G , LRG_391:g.298684A>G | |
| NG_051363.1:g.19293T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92286A>G (TTN) | ENSP00000343764.6:p.Lys30762= | |
| ENST00000342175.11:c.73371A>G (TTN) | ENSP00000340554.6:p.Lys24457= | |
| ENST00000359218.10:c.73170A>G (TTN) | ENSP00000352154.5:p.Lys24390= | |
| ENST00000342175.10:c.73371A>G (TTN) | ENSP00000340554.6:p.Lys24457= | |
| ENST00000342992.10:c.92286A>G (TTN) | ENSP00000343764.6:p.Lys30762= | |
| ENST00000359218.9:c.73170A>G (TTN) | ENSP00000352154.5:p.Lys24390= | |
| ENST00000460472.6:c.72795A>G (TTN) | ENSP00000434586.1:p.Lys24265= | |
| ENST00000589042.5:c.99990A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys33330= | |
| ENST00000591111.5:c.95067A>G (TTN) | ENSP00000465570.1:p.Lys31689= | |
| ENST00000615779.4:c.95067A>G (TTN) | ENSP00000483597.1:p.Lys31689= | |
| NM_001256850.1:c.95067A>G (TTN) | NP_001243779.1:p.Lys31689= | |
| NM_001267550.2:c.99990A>G (TTN) MANE Select | NP_001254479.2:p.Lys33330= | |
| NM_003319.4:c.72795A>G (TTN) | NP_003310.4:p.Lys24265= | |
| NM_133378.4:c.92286A>G (TTN) | NP_596869.4:p.Lys30762= | |
| NM_133432.3:c.73170A>G (TTN) | NP_597676.3:p.Lys24390= | |
| NM_133437.4:c.73371A>G (TTN) | NP_597681.4:p.Lys24457= | |
| NR_038271.1:n.446+13483T>C (TTN-AS1) | ||
| NR_038272.1:n.317-242T>C (TTN-AS1) | ||
| XM_011511729.1:c.99087A>G (TTN) | XP_011510031.1:p.Lys33029= | |
| XM_011511730.1:c.72981A>G (TTN) | XP_011510032.1:p.Lys24327= | |
| XM_011511731.1:c.72840A>G (TTN) | XP_011510033.1:p.Lys24280= | |
| XM_017004819.1:c.98883A>G (TTN) | XP_016860308.1:p.Lys32961= | |
| XM_017004820.1:c.94281A>G (TTN) | XP_016860309.1:p.Lys31427= | |
| XM_017004821.1:c.94278A>G (TTN) | XP_016860310.1:p.Lys31426= | |
| XM_017004822.1:c.91320A>G (TTN) | XP_016860311.1:p.Lys30440= | |
| XM_017004823.1:c.72936A>G (TTN) | XP_016860312.1:p.Lys24312= | |
| XM_024453094.1:c.94431A>G (TTN) | XP_024308862.1:p.Lys31477= | |
| XM_024453095.1:c.94428A>G (TTN) | XP_024308863.1:p.Lys31476= | |
| XM_024453096.1:c.93861A>G (TTN) | XP_024308864.1:p.Lys31287= | |
| XM_024453097.1:c.91203A>G (TTN) | XP_024308865.1:p.Lys30401= | |
| XM_024453098.1:c.91122A>G (TTN) | XP_024308866.1:p.Lys30374= | |
| XM_024453099.1:c.72885A>G (TTN) | XP_024308867.1:p.Lys24295= | |
| XM_024453100.1:c.62739A>G (TTN) | XP_024308868.1:p.Lys20913= |