Linked Data
ClinVar Variation Id:
179810
dbSNP Id:
rs531432790
ExAC:
2:179413573 A / T
gnomAD v2:
2-179413573-A-T
gnomAD v3:
2-178548846-A-T
gnomAD v4:
2-178548846-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548846A>T , CM000664.2:g.178548846A>T | GRCh38 |
| NC_000002.11:g.179413573A>T , CM000664.1:g.179413573A>T | GRCh37 |
| NC_000002.10:g.179121819A>T | NCBI36 |
| NG_011618.3:g.286957T>A , LRG_391:g.286957T>A | |
| NG_051363.1:g.31020A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85076T>A (TTN) | ENSP00000343764.6:p.Ile28359Lys | |
| ENST00000342175.11:c.66161T>A (TTN) | ENSP00000340554.6:p.Ile22054Lys | |
| ENST00000359218.10:c.65960T>A (TTN) | ENSP00000352154.5:p.Ile21987Lys | |
| ENST00000342175.10:c.66161T>A (TTN) | ENSP00000340554.6:p.Ile22054Lys | |
| ENST00000342992.10:c.85076T>A (TTN) | ENSP00000343764.6:p.Ile28359Lys | |
| ENST00000359218.9:c.65960T>A (TTN) | ENSP00000352154.5:p.Ile21987Lys | |
| ENST00000460472.6:c.65585T>A (TTN) | ENSP00000434586.1:p.Ile21862Lys | |
| ENST00000589042.5:c.92780T>A (TTN) MANE Select | ENSP00000467141.1:p.Ile30927Lys | |
| ENST00000591111.5:c.87857T>A (TTN) | ENSP00000465570.1:p.Ile29286Lys | |
| ENST00000615779.4:c.87857T>A (TTN) | ENSP00000483597.1:p.Ile29286Lys | |
| NM_001256850.1:c.87857T>A (TTN) | NP_001243779.1:p.Ile29286Lys | |
| NM_001267550.2:c.92780T>A (TTN) MANE Select | NP_001254479.2:p.Ile30927Lys | |
| NM_003319.4:c.65585T>A (TTN) | NP_003310.4:p.Ile21862Lys | |
| NM_133378.4:c.85076T>A (TTN) | NP_596869.4:p.Ile28359Lys | |
| NM_133432.3:c.65960T>A (TTN) | NP_597676.3:p.Ile21987Lys | |
| NM_133437.4:c.66161T>A (TTN) | NP_597681.4:p.Ile22054Lys | |
| NR_038271.1:n.447-22454A>T (TTN-AS1) | ||
| NR_038272.1:n.2043+6485A>T (TTN-AS1) | ||
| XM_011511729.1:c.91877T>A (TTN) | XP_011510031.1:p.Ile30626Lys | |
| XM_011511730.1:c.65771T>A (TTN) | XP_011510032.1:p.Ile21924Lys | |
| XM_011511731.1:c.65630T>A (TTN) | XP_011510033.1:p.Ile21877Lys | |
| XM_017004819.1:c.91673T>A (TTN) | XP_016860308.1:p.Ile30558Lys | |
| XM_017004820.1:c.87071T>A (TTN) | XP_016860309.1:p.Ile29024Lys | |
| XM_017004821.1:c.87068T>A (TTN) | XP_016860310.1:p.Ile29023Lys | |
| XM_017004822.1:c.84110T>A (TTN) | XP_016860311.1:p.Ile28037Lys | |
| XM_017004823.1:c.65726T>A (TTN) | XP_016860312.1:p.Ile21909Lys | |
| XM_024453094.1:c.87221T>A (TTN) | XP_024308862.1:p.Ile29074Lys | |
| XM_024453095.1:c.87218T>A (TTN) | XP_024308863.1:p.Ile29073Lys | |
| XM_024453096.1:c.86651T>A (TTN) | XP_024308864.1:p.Ile28884Lys | |
| XM_024453097.1:c.83993T>A (TTN) | XP_024308865.1:p.Ile27998Lys | |
| XM_024453098.1:c.83912T>A (TTN) | XP_024308866.1:p.Ile27971Lys | |
| XM_024453099.1:c.65675T>A (TTN) | XP_024308867.1:p.Ile21892Lys | |
| XM_024453100.1:c.55529T>A (TTN) | XP_024308868.1:p.Ile18510Lys |