Linked Data
ClinVar Variation Id:
283874
dbSNP Id:
rs202187398
ExAC:
2:179411522 G / A
gnomAD v2:
2-179411522-G-A
gnomAD v3:
2-178546795-G-A
gnomAD v4:
2-178546795-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546795G>A , CM000664.2:g.178546795G>A | GRCh38 |
| NC_000002.11:g.179411522G>A , CM000664.1:g.179411522G>A | GRCh37 |
| NC_000002.10:g.179119768G>A | NCBI36 |
| NG_011618.3:g.289008C>T , LRG_391:g.289008C>T | |
| NG_051363.1:g.28969G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86929C>T (TTN) | ENSP00000343764.6:p.Arg28977Cys | |
| ENST00000342175.11:c.68014C>T (TTN) | ENSP00000340554.6:p.Arg22672Cys | |
| ENST00000359218.10:c.67813C>T (TTN) | ENSP00000352154.5:p.Arg22605Cys | |
| ENST00000342175.10:c.68014C>T (TTN) | ENSP00000340554.6:p.Arg22672Cys | |
| ENST00000342992.10:c.86929C>T (TTN) | ENSP00000343764.6:p.Arg28977Cys | |
| ENST00000359218.9:c.67813C>T (TTN) | ENSP00000352154.5:p.Arg22605Cys | |
| ENST00000460472.6:c.67438C>T (TTN) | ENSP00000434586.1:p.Arg22480Cys | |
| ENST00000589042.5:c.94633C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg31545Cys | |
| ENST00000591111.5:c.89710C>T (TTN) | ENSP00000465570.1:p.Arg29904Cys | |
| ENST00000615779.4:c.89710C>T (TTN) | ENSP00000483597.1:p.Arg29904Cys | |
| NM_001256850.1:c.89710C>T (TTN) | NP_001243779.1:p.Arg29904Cys | |
| NM_001267550.2:c.94633C>T (TTN) MANE Select | NP_001254479.2:p.Arg31545Cys | |
| NM_003319.4:c.67438C>T (TTN) | NP_003310.4:p.Arg22480Cys | |
| NM_133378.4:c.86929C>T (TTN) | NP_596869.4:p.Arg28977Cys | |
| NM_133432.3:c.67813C>T (TTN) | NP_597676.3:p.Arg22605Cys | |
| NM_133437.4:c.68014C>T (TTN) | NP_597681.4:p.Arg22672Cys | |
| NR_038271.1:n.446+23159G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+4434G>A (TTN-AS1) | ||
| XM_011511729.1:c.93730C>T (TTN) | XP_011510031.1:p.Arg31244Cys | |
| XM_011511730.1:c.67624C>T (TTN) | XP_011510032.1:p.Arg22542Cys | |
| XM_011511731.1:c.67483C>T (TTN) | XP_011510033.1:p.Arg22495Cys | |
| XM_017004819.1:c.93526C>T (TTN) | XP_016860308.1:p.Arg31176Cys | |
| XM_017004820.1:c.88924C>T (TTN) | XP_016860309.1:p.Arg29642Cys | |
| XM_017004821.1:c.88921C>T (TTN) | XP_016860310.1:p.Arg29641Cys | |
| XM_017004822.1:c.85963C>T (TTN) | XP_016860311.1:p.Arg28655Cys | |
| XM_017004823.1:c.67579C>T (TTN) | XP_016860312.1:p.Arg22527Cys | |
| XM_024453094.1:c.89074C>T (TTN) | XP_024308862.1:p.Arg29692Cys | |
| XM_024453095.1:c.89071C>T (TTN) | XP_024308863.1:p.Arg29691Cys | |
| XM_024453096.1:c.88504C>T (TTN) | XP_024308864.1:p.Arg29502Cys | |
| XM_024453097.1:c.85846C>T (TTN) | XP_024308865.1:p.Arg28616Cys | |
| XM_024453098.1:c.85765C>T (TTN) | XP_024308866.1:p.Arg28589Cys | |
| XM_024453099.1:c.67528C>T (TTN) | XP_024308867.1:p.Arg22510Cys | |
| XM_024453100.1:c.57382C>T (TTN) | XP_024308868.1:p.Arg19128Cys |