Linked Data
ClinVar Variation Id:
535106
dbSNP Id:
rs72629781
gnomAD v2:
2-179399903-C-T
gnomAD v3:
2-178535176-C-T
gnomAD v4:
2-178535176-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535176C>T , CM000664.2:g.178535176C>T | GRCh38 |
| NC_000002.11:g.179399903C>T , CM000664.1:g.179399903C>T | GRCh37 |
| NC_000002.10:g.179108149C>T | NCBI36 |
| NG_011618.3:g.300627G>A , LRG_391:g.300627G>A | |
| NG_051363.1:g.17350C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93735G>A (TTN) | ENSP00000343764.6:p.Lys31245= | |
| ENST00000342175.11:c.74820G>A (TTN) | ENSP00000340554.6:p.Lys24940= | |
| ENST00000359218.10:c.74619G>A (TTN) | ENSP00000352154.5:p.Lys24873= | |
| ENST00000342175.10:c.74820G>A (TTN) | ENSP00000340554.6:p.Lys24940= | |
| ENST00000342992.10:c.93735G>A (TTN) | ENSP00000343764.6:p.Lys31245= | |
| ENST00000359218.9:c.74619G>A (TTN) | ENSP00000352154.5:p.Lys24873= | |
| ENST00000460472.6:c.74244G>A (TTN) | ENSP00000434586.1:p.Lys24748= | |
| ENST00000589042.5:c.101439G>A (TTN) MANE Select | ENSP00000467141.1:p.Lys33813= | |
| ENST00000591111.5:c.96516G>A (TTN) | ENSP00000465570.1:p.Lys32172= | |
| ENST00000615779.4:c.96516G>A (TTN) | ENSP00000483597.1:p.Lys32172= | |
| NM_001256850.1:c.96516G>A (TTN) | NP_001243779.1:p.Lys32172= | |
| NM_001267550.2:c.101439G>A (TTN) MANE Select | NP_001254479.2:p.Lys33813= | |
| NM_003319.4:c.74244G>A (TTN) | NP_003310.4:p.Lys24748= | |
| NM_133378.4:c.93735G>A (TTN) | NP_596869.4:p.Lys31245= | |
| NM_133432.3:c.74619G>A (TTN) | NP_597676.3:p.Lys24873= | |
| NM_133437.4:c.74820G>A (TTN) | NP_597681.4:p.Lys24940= | |
| NR_038271.1:n.446+11540C>T (TTN-AS1) | ||
| NR_038272.1:n.220-556C>T (TTN-AS1) | ||
| XM_011511729.1:c.100536G>A (TTN) | XP_011510031.1:p.Lys33512= | |
| XM_011511730.1:c.74430G>A (TTN) | XP_011510032.1:p.Lys24810= | |
| XM_011511731.1:c.74289G>A (TTN) | XP_011510033.1:p.Lys24763= | |
| XM_017004819.1:c.100332G>A (TTN) | XP_016860308.1:p.Lys33444= | |
| XM_017004820.1:c.95730G>A (TTN) | XP_016860309.1:p.Lys31910= | |
| XM_017004821.1:c.95727G>A (TTN) | XP_016860310.1:p.Lys31909= | |
| XM_017004822.1:c.92769G>A (TTN) | XP_016860311.1:p.Lys30923= | |
| XM_017004823.1:c.74385G>A (TTN) | XP_016860312.1:p.Lys24795= | |
| XM_024453094.1:c.95880G>A (TTN) | XP_024308862.1:p.Lys31960= | |
| XM_024453095.1:c.95877G>A (TTN) | XP_024308863.1:p.Lys31959= | |
| XM_024453096.1:c.95310G>A (TTN) | XP_024308864.1:p.Lys31770= | |
| XM_024453097.1:c.92652G>A (TTN) | XP_024308865.1:p.Lys30884= | |
| XM_024453098.1:c.92571G>A (TTN) | XP_024308866.1:p.Lys30857= | |
| XM_024453099.1:c.74334G>A (TTN) | XP_024308867.1:p.Lys24778= | |
| XM_024453100.1:c.64188G>A (TTN) | XP_024308868.1:p.Lys21396= |