Linked Data
ClinVar Variation Id:
467274
dbSNP Id:
rs1316618431
gnomAD v2:
2-179467022-G-A
gnomAD v3:
2-178602295-G-A
gnomAD v4:
2-178602295-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178602295G>A , CM000664.2:g.178602295G>A | GRCh38 |
| NC_000002.11:g.179467022G>A , CM000664.1:g.179467022G>A | GRCh37 |
| NC_000002.10:g.179175267G>A | NCBI36 |
| NG_011618.3:g.233508C>T , LRG_391:g.233508C>T | |
| NG_051363.1:g.84469G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47403C>T (TTN) | ENSP00000343764.6:p.Ala15801= | |
| ENST00000342175.11:c.28488C>T (TTN) | ENSP00000340554.6:p.Ala9496= | |
| ENST00000359218.10:c.28287C>T (TTN) | ENSP00000352154.5:p.Ala9429= | |
| ENST00000342175.10:c.28488C>T (TTN) | ENSP00000340554.6:p.Ala9496= | |
| ENST00000342992.10:c.47403C>T (TTN) | ENSP00000343764.6:p.Ala15801= | |
| ENST00000359218.9:c.28287C>T (TTN) | ENSP00000352154.5:p.Ala9429= | |
| ENST00000460472.6:c.27912C>T (TTN) | ENSP00000434586.1:p.Ala9304= | |
| ENST00000589042.5:c.55107C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala18369= | |
| ENST00000591111.5:c.50184C>T (TTN) | ENSP00000465570.1:p.Ala16728= | |
| ENST00000615779.4:c.50184C>T (TTN) | ENSP00000483597.1:p.Ala16728= | |
| NM_001256850.1:c.50184C>T (TTN) | NP_001243779.1:p.Ala16728= | |
| NM_001267550.2:c.55107C>T (TTN) MANE Select | NP_001254479.2:p.Ala18369= | |
| NM_003319.4:c.27912C>T (TTN) | NP_003310.4:p.Ala9304= | |
| NM_133378.4:c.47403C>T (TTN) | NP_596869.4:p.Ala15801= | |
| NM_133432.3:c.28287C>T (TTN) | NP_597676.3:p.Ala9429= | |
| NM_133437.4:c.28488C>T (TTN) | NP_597681.4:p.Ala9496= | |
| NR_038271.1:n.682+4614G>A (TTN-AS1) | ||
| NR_038272.1:n.3917+1628G>A (TTN-AS1) | ||
| XM_011511729.1:c.54204C>T (TTN) | XP_011510031.1:p.Ala18068= | |
| XM_011511730.1:c.28098C>T (TTN) | XP_011510032.1:p.Ala9366= | |
| XM_011511731.1:c.27957C>T (TTN) | XP_011510033.1:p.Ala9319= | |
| XM_017004819.1:c.54000C>T (TTN) | XP_016860308.1:p.Ala18000= | |
| XM_017004820.1:c.49398C>T (TTN) | XP_016860309.1:p.Ala16466= | |
| XM_017004821.1:c.49395C>T (TTN) | XP_016860310.1:p.Ala16465= | |
| XM_017004822.1:c.46437C>T (TTN) | XP_016860311.1:p.Ala15479= | |
| XM_017004823.1:c.28053C>T (TTN) | XP_016860312.1:p.Ala9351= | |
| XM_024453094.1:c.49548C>T (TTN) | XP_024308862.1:p.Ala16516= | |
| XM_024453095.1:c.49545C>T (TTN) | XP_024308863.1:p.Ala16515= | |
| XM_024453096.1:c.48978C>T (TTN) | XP_024308864.1:p.Ala16326= | |
| XM_024453097.1:c.46320C>T (TTN) | XP_024308865.1:p.Ala15440= | |
| XM_024453098.1:c.46239C>T (TTN) | XP_024308866.1:p.Ala15413= | |
| XM_024453099.1:c.28002C>T (TTN) | XP_024308867.1:p.Ala9334= | |
| XM_024453100.1:c.17856C>T (TTN) | XP_024308868.1:p.Ala5952= |