Linked Data
ClinVar Variation Id:
96328
ClinVar RCV Id:
RCV002399472
dbSNP Id:
rs398124463
ExAC:
2:179396761 G / A
gnomAD v2:
2-179396761-G-A
gnomAD v3:
2-178532034-G-A
gnomAD v4:
2-178532034-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532034G>A , CM000664.2:g.178532034G>A | GRCh38 |
| NC_000002.11:g.179396761G>A , CM000664.1:g.179396761G>A | GRCh37 |
| NC_000002.10:g.179105007G>A | NCBI36 |
| NG_011618.3:g.303769C>T , LRG_391:g.303769C>T | |
| NG_051363.1:g.14208G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.96877C>T (TTN) | ENSP00000343764.6:p.Arg32293Cys | |
| ENST00000342175.11:c.77962C>T (TTN) | ENSP00000340554.6:p.Arg25988Cys | |
| ENST00000359218.10:c.77761C>T (TTN) | ENSP00000352154.5:p.Arg25921Cys | |
| ENST00000342175.10:c.77962C>T (TTN) | ENSP00000340554.6:p.Arg25988Cys | |
| ENST00000342992.10:c.96877C>T (TTN) | ENSP00000343764.6:p.Arg32293Cys | |
| ENST00000359218.9:c.77761C>T (TTN) | ENSP00000352154.5:p.Arg25921Cys | |
| ENST00000460472.6:c.77386C>T (TTN) | ENSP00000434586.1:p.Arg25796Cys | |
| ENST00000589042.5:c.104581C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg34861Cys | |
| ENST00000591111.5:c.99658C>T (TTN) | ENSP00000465570.1:p.Arg33220Cys | |
| ENST00000615779.4:c.99658C>T (TTN) | ENSP00000483597.1:p.Arg33220Cys | |
| NM_001256850.1:c.99658C>T (TTN) | NP_001243779.1:p.Arg33220Cys | |
| NM_001267550.2:c.104581C>T (TTN) MANE Select | NP_001254479.2:p.Arg34861Cys | |
| NM_003319.4:c.77386C>T (TTN) | NP_003310.4:p.Arg25796Cys | |
| NM_133378.4:c.96877C>T (TTN) | NP_596869.4:p.Arg32293Cys | |
| NM_133432.3:c.77761C>T (TTN) | NP_597676.3:p.Arg25921Cys | |
| NM_133437.4:c.77962C>T (TTN) | NP_597681.4:p.Arg25988Cys | |
| NR_038271.1:n.446+8398G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3698G>A (TTN-AS1) | ||
| XM_011511729.1:c.103678C>T (TTN) | XP_011510031.1:p.Arg34560Cys | |
| XM_011511730.1:c.77572C>T (TTN) | XP_011510032.1:p.Arg25858Cys | |
| XM_011511731.1:c.77431C>T (TTN) | XP_011510033.1:p.Arg25811Cys | |
| XM_017004819.1:c.103474C>T (TTN) | XP_016860308.1:p.Arg34492Cys | |
| XM_017004820.1:c.98872C>T (TTN) | XP_016860309.1:p.Arg32958Cys | |
| XM_017004821.1:c.98869C>T (TTN) | XP_016860310.1:p.Arg32957Cys | |
| XM_017004822.1:c.95911C>T (TTN) | XP_016860311.1:p.Arg31971Cys | |
| XM_017004823.1:c.77527C>T (TTN) | XP_016860312.1:p.Arg25843Cys | |
| XM_024453094.1:c.99022C>T (TTN) | XP_024308862.1:p.Arg33008Cys | |
| XM_024453095.1:c.99019C>T (TTN) | XP_024308863.1:p.Arg33007Cys | |
| XM_024453096.1:c.98452C>T (TTN) | XP_024308864.1:p.Arg32818Cys | |
| XM_024453097.1:c.95794C>T (TTN) | XP_024308865.1:p.Arg31932Cys | |
| XM_024453098.1:c.95713C>T (TTN) | XP_024308866.1:p.Arg31905Cys | |
| XM_024453099.1:c.77476C>T (TTN) | XP_024308867.1:p.Arg25826Cys | |
| XM_024453100.1:c.67330C>T (TTN) | XP_024308868.1:p.Arg22444Cys |