Linked Data
ClinVar Variation Id:
47146
dbSNP Id:
rs72646839
ExAC:
2:179457733 G / A
gnomAD v2:
2-179457733-G-A
gnomAD v3:
2-178593006-G-A
gnomAD v4:
2-178593006-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593006G>A , CM000664.2:g.178593006G>A | GRCh38 |
| NC_000002.11:g.179457733G>A , CM000664.1:g.179457733G>A | GRCh37 |
| NC_000002.10:g.179165979G>A | NCBI36 |
| NG_011618.3:g.242797C>T , LRG_391:g.242797C>T | |
| NG_051363.1:g.75180G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51409C>T (TTN) | ENSP00000343764.6:p.Arg17137Cys | |
| ENST00000342175.11:c.32494C>T (TTN) | ENSP00000340554.6:p.Arg10832Cys | |
| ENST00000359218.10:c.32293C>T (TTN) | ENSP00000352154.5:p.Arg10765Cys | |
| ENST00000342175.10:c.32494C>T (TTN) | ENSP00000340554.6:p.Arg10832Cys | |
| ENST00000342992.10:c.51409C>T (TTN) | ENSP00000343764.6:p.Arg17137Cys | |
| ENST00000359218.9:c.32293C>T (TTN) | ENSP00000352154.5:p.Arg10765Cys | |
| ENST00000460472.6:c.31918C>T (TTN) | ENSP00000434586.1:p.Arg10640Cys | |
| ENST00000589042.5:c.59113C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg19705Cys | |
| ENST00000591111.5:c.54190C>T (TTN) | ENSP00000465570.1:p.Arg18064Cys | |
| ENST00000615779.4:c.54190C>T (TTN) | ENSP00000483597.1:p.Arg18064Cys | |
| NM_001256850.1:c.54190C>T (TTN) | NP_001243779.1:p.Arg18064Cys | |
| NM_001267550.2:c.59113C>T (TTN) MANE Select | NP_001254479.2:p.Arg19705Cys | |
| NM_003319.4:c.31918C>T (TTN) | NP_003310.4:p.Arg10640Cys | |
| NM_133378.4:c.51409C>T (TTN) | NP_596869.4:p.Arg17137Cys | |
| NM_133432.3:c.32293C>T (TTN) | NP_597676.3:p.Arg10765Cys | |
| NM_133437.4:c.32494C>T (TTN) | NP_597681.4:p.Arg10832Cys | |
| NR_038271.1:n.597-4590G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+1692G>A (TTN-AS1) | ||
| XM_011511729.1:c.58210C>T (TTN) | XP_011510031.1:p.Arg19404Cys | |
| XM_011511730.1:c.32104C>T (TTN) | XP_011510032.1:p.Arg10702Cys | |
| XM_011511731.1:c.31963C>T (TTN) | XP_011510033.1:p.Arg10655Cys | |
| XM_017004819.1:c.58006C>T (TTN) | XP_016860308.1:p.Arg19336Cys | |
| XM_017004820.1:c.53404C>T (TTN) | XP_016860309.1:p.Arg17802Cys | |
| XM_017004821.1:c.53401C>T (TTN) | XP_016860310.1:p.Arg17801Cys | |
| XM_017004822.1:c.50443C>T (TTN) | XP_016860311.1:p.Arg16815Cys | |
| XM_017004823.1:c.32059C>T (TTN) | XP_016860312.1:p.Arg10687Cys | |
| XM_024453094.1:c.53554C>T (TTN) | XP_024308862.1:p.Arg17852Cys | |
| XM_024453095.1:c.53551C>T (TTN) | XP_024308863.1:p.Arg17851Cys | |
| XM_024453096.1:c.52984C>T (TTN) | XP_024308864.1:p.Arg17662Cys | |
| XM_024453097.1:c.50326C>T (TTN) | XP_024308865.1:p.Arg16776Cys | |
| XM_024453098.1:c.50245C>T (TTN) | XP_024308866.1:p.Arg16749Cys | |
| XM_024453099.1:c.32008C>T (TTN) | XP_024308867.1:p.Arg10670Cys | |
| XM_024453100.1:c.21862C>T (TTN) | XP_024308868.1:p.Arg7288Cys |