Linked Data
ClinVar Variation Id:
179704
dbSNP Id:
rs547682223
ExAC:
2:179479398 G / A
gnomAD v2:
2-179479398-G-A
gnomAD v3:
2-178614671-G-A
gnomAD v4:
2-178614671-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614671G>A , CM000664.2:g.178614671G>A | GRCh38 |
| NC_000002.11:g.179479398G>A , CM000664.1:g.179479398G>A | GRCh37 |
| NC_000002.10:g.179187643G>A | NCBI36 |
| NG_011618.3:g.221132C>T , LRG_391:g.221132C>T | |
| NG_051363.1:g.96845G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41139C>T (TTN) | ENSP00000343764.6:p.Thr13713= | |
| ENST00000342175.11:c.22224C>T (TTN) | ENSP00000340554.6:p.Thr7408= | |
| ENST00000359218.10:c.22023C>T (TTN) | ENSP00000352154.5:p.Thr7341= | |
| ENST00000342175.10:c.22224C>T (TTN) | ENSP00000340554.6:p.Thr7408= | |
| ENST00000342992.10:c.41139C>T (TTN) | ENSP00000343764.6:p.Thr13713= | |
| ENST00000359218.9:c.22023C>T (TTN) | ENSP00000352154.5:p.Thr7341= | |
| ENST00000460472.6:c.21648C>T (TTN) | ENSP00000434586.1:p.Thr7216= | |
| ENST00000589042.5:c.48843C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr16281= | |
| ENST00000591111.5:c.43920C>T (TTN) | ENSP00000465570.1:p.Thr14640= | |
| ENST00000615779.4:c.43920C>T (TTN) | ENSP00000483597.1:p.Thr14640= | |
| NM_001256850.1:c.43920C>T (TTN) | NP_001243779.1:p.Thr14640= | |
| NM_001267550.2:c.48843C>T (TTN) MANE Select | NP_001254479.2:p.Thr16281= | |
| NM_003319.4:c.21648C>T (TTN) | NP_003310.4:p.Thr7216= | |
| NM_133378.4:c.41139C>T (TTN) | NP_596869.4:p.Thr13713= | |
| NM_133432.3:c.22023C>T (TTN) | NP_597676.3:p.Thr7341= | |
| NM_133437.4:c.22224C>T (TTN) | NP_597681.4:p.Thr7408= | |
| NR_038271.1:n.1419G>A (TTN-AS1) | ||
| XM_011511729.1:c.47940C>T (TTN) | XP_011510031.1:p.Thr15980= | |
| XM_011511730.1:c.21834C>T (TTN) | XP_011510032.1:p.Thr7278= | |
| XM_011511731.1:c.21693C>T (TTN) | XP_011510033.1:p.Thr7231= | |
| XM_017004819.1:c.47736C>T (TTN) | XP_016860308.1:p.Thr15912= | |
| XM_017004820.1:c.43134C>T (TTN) | XP_016860309.1:p.Thr14378= | |
| XM_017004821.1:c.43131C>T (TTN) | XP_016860310.1:p.Thr14377= | |
| XM_017004822.1:c.40173C>T (TTN) | XP_016860311.1:p.Thr13391= | |
| XM_017004823.1:c.21789C>T (TTN) | XP_016860312.1:p.Thr7263= | |
| XM_024453094.1:c.43284C>T (TTN) | XP_024308862.1:p.Thr14428= | |
| XM_024453095.1:c.43281C>T (TTN) | XP_024308863.1:p.Thr14427= | |
| XM_024453096.1:c.42714C>T (TTN) | XP_024308864.1:p.Thr14238= | |
| XM_024453097.1:c.40056C>T (TTN) | XP_024308865.1:p.Thr13352= | |
| XM_024453098.1:c.39975C>T (TTN) | XP_024308866.1:p.Thr13325= | |
| XM_024453099.1:c.21738C>T (TTN) | XP_024308867.1:p.Thr7246= | |
| XM_024453100.1:c.11592C>T (TTN) | XP_024308868.1:p.Thr3864= |