Linked Data
ClinVar Variation Id:
289443
dbSNP Id:
rs879239475
gnomAD v2:
2-179466221-C-T
gnomAD v3:
2-178601494-C-T
gnomAD v4:
2-178601494-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601494C>T , CM000664.2:g.178601494C>T | GRCh38 |
| NC_000002.11:g.179466221C>T , CM000664.1:g.179466221C>T | GRCh37 |
| NC_000002.10:g.179174466C>T | NCBI36 |
| NG_011618.3:g.234309G>A , LRG_391:g.234309G>A | |
| NG_051363.1:g.83668C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.47799G>A (TTN) | ENSP00000343764.6:p.Lys15933= | |
| ENST00000342175.11:c.28884G>A (TTN) | ENSP00000340554.6:p.Lys9628= | |
| ENST00000359218.10:c.28683G>A (TTN) | ENSP00000352154.5:p.Lys9561= | |
| ENST00000342175.10:c.28884G>A (TTN) | ENSP00000340554.6:p.Lys9628= | |
| ENST00000342992.10:c.47799G>A (TTN) | ENSP00000343764.6:p.Lys15933= | |
| ENST00000359218.9:c.28683G>A (TTN) | ENSP00000352154.5:p.Lys9561= | |
| ENST00000460472.6:c.28308G>A (TTN) | ENSP00000434586.1:p.Lys9436= | |
| ENST00000589042.5:c.55503G>A (TTN) MANE Select | ENSP00000467141.1:p.Lys18501= | |
| ENST00000591111.5:c.50580G>A (TTN) | ENSP00000465570.1:p.Lys16860= | |
| ENST00000615779.4:c.50580G>A (TTN) | ENSP00000483597.1:p.Lys16860= | |
| NM_001256850.1:c.50580G>A (TTN) | NP_001243779.1:p.Lys16860= | |
| NM_001267550.2:c.55503G>A (TTN) MANE Select | NP_001254479.2:p.Lys18501= | |
| NM_003319.4:c.28308G>A (TTN) | NP_003310.4:p.Lys9436= | |
| NM_133378.4:c.47799G>A (TTN) | NP_596869.4:p.Lys15933= | |
| NM_133432.3:c.28683G>A (TTN) | NP_597676.3:p.Lys9561= | |
| NM_133437.4:c.28884G>A (TTN) | NP_597681.4:p.Lys9628= | |
| NR_038271.1:n.682+3813C>T (TTN-AS1) | ||
| NR_038272.1:n.3917+827C>T (TTN-AS1) | ||
| XM_011511729.1:c.54600G>A (TTN) | XP_011510031.1:p.Lys18200= | |
| XM_011511730.1:c.28494G>A (TTN) | XP_011510032.1:p.Lys9498= | |
| XM_011511731.1:c.28353G>A (TTN) | XP_011510033.1:p.Lys9451= | |
| XM_017004819.1:c.54396G>A (TTN) | XP_016860308.1:p.Lys18132= | |
| XM_017004820.1:c.49794G>A (TTN) | XP_016860309.1:p.Lys16598= | |
| XM_017004821.1:c.49791G>A (TTN) | XP_016860310.1:p.Lys16597= | |
| XM_017004822.1:c.46833G>A (TTN) | XP_016860311.1:p.Lys15611= | |
| XM_017004823.1:c.28449G>A (TTN) | XP_016860312.1:p.Lys9483= | |
| XM_024453094.1:c.49944G>A (TTN) | XP_024308862.1:p.Lys16648= | |
| XM_024453095.1:c.49941G>A (TTN) | XP_024308863.1:p.Lys16647= | |
| XM_024453096.1:c.49374G>A (TTN) | XP_024308864.1:p.Lys16458= | |
| XM_024453097.1:c.46716G>A (TTN) | XP_024308865.1:p.Lys15572= | |
| XM_024453098.1:c.46635G>A (TTN) | XP_024308866.1:p.Lys15545= | |
| XM_024453099.1:c.28398G>A (TTN) | XP_024308867.1:p.Lys9466= | |
| XM_024453100.1:c.18252G>A (TTN) | XP_024308868.1:p.Lys6084= |