Linked Data
ClinVar Variation Id:
498064
dbSNP Id:
rs773408387
ExAC:
2:179398040 A / G
gnomAD v2:
2-179398040-A-G
gnomAD v3:
2-178533313-A-G
gnomAD v4:
2-178533313-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178533313A>G , CM000664.2:g.178533313A>G | GRCh38 |
| NC_000002.11:g.179398040A>G , CM000664.1:g.179398040A>G | GRCh37 |
| NC_000002.10:g.179106286A>G | NCBI36 |
| NG_011618.3:g.302490T>C , LRG_391:g.302490T>C | |
| NG_051363.1:g.15487A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95598T>C (TTN) | ENSP00000343764.6:p.Tyr31866= | |
| ENST00000342175.11:c.76683T>C (TTN) | ENSP00000340554.6:p.Tyr25561= | |
| ENST00000359218.10:c.76482T>C (TTN) | ENSP00000352154.5:p.Tyr25494= | |
| ENST00000342175.10:c.76683T>C (TTN) | ENSP00000340554.6:p.Tyr25561= | |
| ENST00000342992.10:c.95598T>C (TTN) | ENSP00000343764.6:p.Tyr31866= | |
| ENST00000359218.9:c.76482T>C (TTN) | ENSP00000352154.5:p.Tyr25494= | |
| ENST00000460472.6:c.76107T>C (TTN) | ENSP00000434586.1:p.Tyr25369= | |
| ENST00000589042.5:c.103302T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr34434= | |
| ENST00000591111.5:c.98379T>C (TTN) | ENSP00000465570.1:p.Tyr32793= | |
| ENST00000615779.4:c.98379T>C (TTN) | ENSP00000483597.1:p.Tyr32793= | |
| NM_001256850.1:c.98379T>C (TTN) | NP_001243779.1:p.Tyr32793= | |
| NM_001267550.2:c.103302T>C (TTN) MANE Select | NP_001254479.2:p.Tyr34434= | |
| NM_003319.4:c.76107T>C (TTN) | NP_003310.4:p.Tyr25369= | |
| NM_133378.4:c.95598T>C (TTN) | NP_596869.4:p.Tyr31866= | |
| NM_133432.3:c.76482T>C (TTN) | NP_597676.3:p.Tyr25494= | |
| NM_133437.4:c.76683T>C (TTN) | NP_597681.4:p.Tyr25561= | |
| NR_038271.1:n.446+9677A>G (TTN-AS1) | ||
| NR_038272.1:n.220-2419A>G (TTN-AS1) | ||
| XM_011511729.1:c.102399T>C (TTN) | XP_011510031.1:p.Tyr34133= | |
| XM_011511730.1:c.76293T>C (TTN) | XP_011510032.1:p.Tyr25431= | |
| XM_011511731.1:c.76152T>C (TTN) | XP_011510033.1:p.Tyr25384= | |
| XM_017004819.1:c.102195T>C (TTN) | XP_016860308.1:p.Tyr34065= | |
| XM_017004820.1:c.97593T>C (TTN) | XP_016860309.1:p.Tyr32531= | |
| XM_017004821.1:c.97590T>C (TTN) | XP_016860310.1:p.Tyr32530= | |
| XM_017004822.1:c.94632T>C (TTN) | XP_016860311.1:p.Tyr31544= | |
| XM_017004823.1:c.76248T>C (TTN) | XP_016860312.1:p.Tyr25416= | |
| XM_024453094.1:c.97743T>C (TTN) | XP_024308862.1:p.Tyr32581= | |
| XM_024453095.1:c.97740T>C (TTN) | XP_024308863.1:p.Tyr32580= | |
| XM_024453096.1:c.97173T>C (TTN) | XP_024308864.1:p.Tyr32391= | |
| XM_024453097.1:c.94515T>C (TTN) | XP_024308865.1:p.Tyr31505= | |
| XM_024453098.1:c.94434T>C (TTN) | XP_024308866.1:p.Tyr31478= | |
| XM_024453099.1:c.76197T>C (TTN) | XP_024308867.1:p.Tyr25399= | |
| XM_024453100.1:c.66051T>C (TTN) | XP_024308868.1:p.Tyr22017= |