Linked Data
ClinVar Variation Id:
287452
dbSNP Id:
rs375625664
ExAC:
2:179398781 G / A
gnomAD v2:
2-179398781-G-A
gnomAD v3:
2-178534054-G-A
gnomAD v4:
2-178534054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534054G>A , CM000664.2:g.178534054G>A | GRCh38 |
| NC_000002.11:g.179398781G>A , CM000664.1:g.179398781G>A | GRCh37 |
| NC_000002.10:g.179107027G>A | NCBI36 |
| NG_011618.3:g.301749C>T , LRG_391:g.301749C>T | |
| NG_051363.1:g.16228G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.94857C>T (TTN) | ENSP00000343764.6:p.Tyr31619= | |
| ENST00000342175.11:c.75942C>T (TTN) | ENSP00000340554.6:p.Tyr25314= | |
| ENST00000359218.10:c.75741C>T (TTN) | ENSP00000352154.5:p.Tyr25247= | |
| ENST00000342175.10:c.75942C>T (TTN) | ENSP00000340554.6:p.Tyr25314= | |
| ENST00000342992.10:c.94857C>T (TTN) | ENSP00000343764.6:p.Tyr31619= | |
| ENST00000359218.9:c.75741C>T (TTN) | ENSP00000352154.5:p.Tyr25247= | |
| ENST00000460472.6:c.75366C>T (TTN) | ENSP00000434586.1:p.Tyr25122= | |
| ENST00000589042.5:c.102561C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr34187= | |
| ENST00000591111.5:c.97638C>T (TTN) | ENSP00000465570.1:p.Tyr32546= | |
| ENST00000615779.4:c.97638C>T (TTN) | ENSP00000483597.1:p.Tyr32546= | |
| NM_001256850.1:c.97638C>T (TTN) | NP_001243779.1:p.Tyr32546= | |
| NM_001267550.2:c.102561C>T (TTN) MANE Select | NP_001254479.2:p.Tyr34187= | |
| NM_003319.4:c.75366C>T (TTN) | NP_003310.4:p.Tyr25122= | |
| NM_133378.4:c.94857C>T (TTN) | NP_596869.4:p.Tyr31619= | |
| NM_133432.3:c.75741C>T (TTN) | NP_597676.3:p.Tyr25247= | |
| NM_133437.4:c.75942C>T (TTN) | NP_597681.4:p.Tyr25314= | |
| NR_038271.1:n.446+10418G>A (TTN-AS1) | ||
| NR_038272.1:n.220-1678G>A (TTN-AS1) | ||
| XM_011511729.1:c.101658C>T (TTN) | XP_011510031.1:p.Tyr33886= | |
| XM_011511730.1:c.75552C>T (TTN) | XP_011510032.1:p.Tyr25184= | |
| XM_011511731.1:c.75411C>T (TTN) | XP_011510033.1:p.Tyr25137= | |
| XM_017004819.1:c.101454C>T (TTN) | XP_016860308.1:p.Tyr33818= | |
| XM_017004820.1:c.96852C>T (TTN) | XP_016860309.1:p.Tyr32284= | |
| XM_017004821.1:c.96849C>T (TTN) | XP_016860310.1:p.Tyr32283= | |
| XM_017004822.1:c.93891C>T (TTN) | XP_016860311.1:p.Tyr31297= | |
| XM_017004823.1:c.75507C>T (TTN) | XP_016860312.1:p.Tyr25169= | |
| XM_024453094.1:c.97002C>T (TTN) | XP_024308862.1:p.Tyr32334= | |
| XM_024453095.1:c.96999C>T (TTN) | XP_024308863.1:p.Tyr32333= | |
| XM_024453096.1:c.96432C>T (TTN) | XP_024308864.1:p.Tyr32144= | |
| XM_024453097.1:c.93774C>T (TTN) | XP_024308865.1:p.Tyr31258= | |
| XM_024453098.1:c.93693C>T (TTN) | XP_024308866.1:p.Tyr31231= | |
| XM_024453099.1:c.75456C>T (TTN) | XP_024308867.1:p.Tyr25152= | |
| XM_024453100.1:c.65310C>T (TTN) | XP_024308868.1:p.Tyr21770= |