Linked Data
ClinVar Variation Id:
228114
dbSNP Id:
rs775577598
ExAC:
2:179457773 A / G
gnomAD v2:
2-179457773-A-G
gnomAD v3:
2-178593046-A-G
gnomAD v4:
2-178593046-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593046A>G , CM000664.2:g.178593046A>G | GRCh38 |
| NC_000002.11:g.179457773A>G , CM000664.1:g.179457773A>G | GRCh37 |
| NC_000002.10:g.179166019A>G | NCBI36 |
| NG_011618.3:g.242757T>C , LRG_391:g.242757T>C | |
| NG_051363.1:g.75220A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51369T>C (TTN) | ENSP00000343764.6:p.Asp17123= | |
| ENST00000342175.11:c.32454T>C (TTN) | ENSP00000340554.6:p.Asp10818= | |
| ENST00000359218.10:c.32253T>C (TTN) | ENSP00000352154.5:p.Asp10751= | |
| ENST00000342175.10:c.32454T>C (TTN) | ENSP00000340554.6:p.Asp10818= | |
| ENST00000342992.10:c.51369T>C (TTN) | ENSP00000343764.6:p.Asp17123= | |
| ENST00000359218.9:c.32253T>C (TTN) | ENSP00000352154.5:p.Asp10751= | |
| ENST00000460472.6:c.31878T>C (TTN) | ENSP00000434586.1:p.Asp10626= | |
| ENST00000589042.5:c.59073T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp19691= | |
| ENST00000591111.5:c.54150T>C (TTN) | ENSP00000465570.1:p.Asp18050= | |
| ENST00000615779.4:c.54150T>C (TTN) | ENSP00000483597.1:p.Asp18050= | |
| NM_001256850.1:c.54150T>C (TTN) | NP_001243779.1:p.Asp18050= | |
| NM_001267550.2:c.59073T>C (TTN) MANE Select | NP_001254479.2:p.Asp19691= | |
| NM_003319.4:c.31878T>C (TTN) | NP_003310.4:p.Asp10626= | |
| NM_133378.4:c.51369T>C (TTN) | NP_596869.4:p.Asp17123= | |
| NM_133432.3:c.32253T>C (TTN) | NP_597676.3:p.Asp10751= | |
| NM_133437.4:c.32454T>C (TTN) | NP_597681.4:p.Asp10818= | |
| NR_038271.1:n.597-4550A>G (TTN-AS1) | ||
| NR_038272.1:n.3364+1732A>G (TTN-AS1) | ||
| XM_011511729.1:c.58170T>C (TTN) | XP_011510031.1:p.Asp19390= | |
| XM_011511730.1:c.32064T>C (TTN) | XP_011510032.1:p.Asp10688= | |
| XM_011511731.1:c.31923T>C (TTN) | XP_011510033.1:p.Asp10641= | |
| XM_017004819.1:c.57966T>C (TTN) | XP_016860308.1:p.Asp19322= | |
| XM_017004820.1:c.53364T>C (TTN) | XP_016860309.1:p.Asp17788= | |
| XM_017004821.1:c.53361T>C (TTN) | XP_016860310.1:p.Asp17787= | |
| XM_017004822.1:c.50403T>C (TTN) | XP_016860311.1:p.Asp16801= | |
| XM_017004823.1:c.32019T>C (TTN) | XP_016860312.1:p.Asp10673= | |
| XM_024453094.1:c.53514T>C (TTN) | XP_024308862.1:p.Asp17838= | |
| XM_024453095.1:c.53511T>C (TTN) | XP_024308863.1:p.Asp17837= | |
| XM_024453096.1:c.52944T>C (TTN) | XP_024308864.1:p.Asp17648= | |
| XM_024453097.1:c.50286T>C (TTN) | XP_024308865.1:p.Asp16762= | |
| XM_024453098.1:c.50205T>C (TTN) | XP_024308866.1:p.Asp16735= | |
| XM_024453099.1:c.31968T>C (TTN) | XP_024308867.1:p.Asp10656= | |
| XM_024453100.1:c.21822T>C (TTN) | XP_024308868.1:p.Asp7274= |