Linked Data
ClinVar Variation Id:
228174
dbSNP Id:
rs368984050
ExAC:
2:179401085 G / A
gnomAD v2:
2-179401085-G-A
gnomAD v3:
2-178536358-G-A
gnomAD v4:
2-178536358-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178536358G>A , CM000664.2:g.178536358G>A | GRCh38 |
| NC_000002.11:g.179401085G>A , CM000664.1:g.179401085G>A | GRCh37 |
| NC_000002.10:g.179109331G>A | NCBI36 |
| NG_011618.3:g.299445C>T , LRG_391:g.299445C>T | |
| NG_051363.1:g.18532G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92685C>T (TTN) | ENSP00000343764.6:p.Tyr30895= | |
| ENST00000342175.11:c.73770C>T (TTN) | ENSP00000340554.6:p.Tyr24590= | |
| ENST00000359218.10:c.73569C>T (TTN) | ENSP00000352154.5:p.Tyr24523= | |
| ENST00000342175.10:c.73770C>T (TTN) | ENSP00000340554.6:p.Tyr24590= | |
| ENST00000342992.10:c.92685C>T (TTN) | ENSP00000343764.6:p.Tyr30895= | |
| ENST00000359218.9:c.73569C>T (TTN) | ENSP00000352154.5:p.Tyr24523= | |
| ENST00000460472.6:c.73194C>T (TTN) | ENSP00000434586.1:p.Tyr24398= | |
| ENST00000589042.5:c.100389C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr33463= | |
| ENST00000591111.5:c.95466C>T (TTN) | ENSP00000465570.1:p.Tyr31822= | |
| ENST00000615779.4:c.95466C>T (TTN) | ENSP00000483597.1:p.Tyr31822= | |
| NM_001256850.1:c.95466C>T (TTN) | NP_001243779.1:p.Tyr31822= | |
| NM_001267550.2:c.100389C>T (TTN) MANE Select | NP_001254479.2:p.Tyr33463= | |
| NM_003319.4:c.73194C>T (TTN) | NP_003310.4:p.Tyr24398= | |
| NM_133378.4:c.92685C>T (TTN) | NP_596869.4:p.Tyr30895= | |
| NM_133432.3:c.73569C>T (TTN) | NP_597676.3:p.Tyr24523= | |
| NM_133437.4:c.73770C>T (TTN) | NP_597681.4:p.Tyr24590= | |
| NR_038271.1:n.446+12722G>A (TTN-AS1) | ||
| NR_038272.1:n.316+530G>A (TTN-AS1) | ||
| XM_011511729.1:c.99486C>T (TTN) | XP_011510031.1:p.Tyr33162= | |
| XM_011511730.1:c.73380C>T (TTN) | XP_011510032.1:p.Tyr24460= | |
| XM_011511731.1:c.73239C>T (TTN) | XP_011510033.1:p.Tyr24413= | |
| XM_017004819.1:c.99282C>T (TTN) | XP_016860308.1:p.Tyr33094= | |
| XM_017004820.1:c.94680C>T (TTN) | XP_016860309.1:p.Tyr31560= | |
| XM_017004821.1:c.94677C>T (TTN) | XP_016860310.1:p.Tyr31559= | |
| XM_017004822.1:c.91719C>T (TTN) | XP_016860311.1:p.Tyr30573= | |
| XM_017004823.1:c.73335C>T (TTN) | XP_016860312.1:p.Tyr24445= | |
| XM_024453094.1:c.94830C>T (TTN) | XP_024308862.1:p.Tyr31610= | |
| XM_024453095.1:c.94827C>T (TTN) | XP_024308863.1:p.Tyr31609= | |
| XM_024453096.1:c.94260C>T (TTN) | XP_024308864.1:p.Tyr31420= | |
| XM_024453097.1:c.91602C>T (TTN) | XP_024308865.1:p.Tyr30534= | |
| XM_024453098.1:c.91521C>T (TTN) | XP_024308866.1:p.Tyr30507= | |
| XM_024453099.1:c.73284C>T (TTN) | XP_024308867.1:p.Tyr24428= | |
| XM_024453100.1:c.63138C>T (TTN) | XP_024308868.1:p.Tyr21046= |