Linked Data
ClinVar Variation Id:
507035
dbSNP Id:
rs376310289
ExAC:
2:179459084 G / A
gnomAD v2:
2-179459084-G-A
gnomAD v3:
2-178594357-G-A
gnomAD v4:
2-178594357-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178594357G>A , CM000664.2:g.178594357G>A | GRCh38 |
| NC_000002.11:g.179459084G>A , CM000664.1:g.179459084G>A | GRCh37 |
| NC_000002.10:g.179167330G>A | NCBI36 |
| NG_011618.3:g.241446C>T , LRG_391:g.241446C>T | |
| NG_051363.1:g.76531G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50433C>T (TTN) | ENSP00000343764.6:p.Cys16811= | |
| ENST00000342175.11:c.31518C>T (TTN) | ENSP00000340554.6:p.Cys10506= | |
| ENST00000359218.10:c.31317C>T (TTN) | ENSP00000352154.5:p.Cys10439= | |
| ENST00000342175.10:c.31518C>T (TTN) | ENSP00000340554.6:p.Cys10506= | |
| ENST00000342992.10:c.50433C>T (TTN) | ENSP00000343764.6:p.Cys16811= | |
| ENST00000359218.9:c.31317C>T (TTN) | ENSP00000352154.5:p.Cys10439= | |
| ENST00000460472.6:c.30942C>T (TTN) | ENSP00000434586.1:p.Cys10314= | |
| ENST00000589042.5:c.58137C>T (TTN) MANE Select | ENSP00000467141.1:p.Cys19379= | |
| ENST00000591111.5:c.53214C>T (TTN) | ENSP00000465570.1:p.Cys17738= | |
| ENST00000615779.4:c.53214C>T (TTN) | ENSP00000483597.1:p.Cys17738= | |
| NM_001256850.1:c.53214C>T (TTN) | NP_001243779.1:p.Cys17738= | |
| NM_001267550.2:c.58137C>T (TTN) MANE Select | NP_001254479.2:p.Cys19379= | |
| NM_003319.4:c.30942C>T (TTN) | NP_003310.4:p.Cys10314= | |
| NM_133378.4:c.50433C>T (TTN) | NP_596869.4:p.Cys16811= | |
| NM_133432.3:c.31317C>T (TTN) | NP_597676.3:p.Cys10439= | |
| NM_133437.4:c.31518C>T (TTN) | NP_597681.4:p.Cys10506= | |
| NR_038271.1:n.597-3239G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+3043G>A (TTN-AS1) | ||
| XM_011511729.1:c.57234C>T (TTN) | XP_011510031.1:p.Cys19078= | |
| XM_011511730.1:c.31128C>T (TTN) | XP_011510032.1:p.Cys10376= | |
| XM_011511731.1:c.30987C>T (TTN) | XP_011510033.1:p.Cys10329= | |
| XM_017004819.1:c.57030C>T (TTN) | XP_016860308.1:p.Cys19010= | |
| XM_017004820.1:c.52428C>T (TTN) | XP_016860309.1:p.Cys17476= | |
| XM_017004821.1:c.52425C>T (TTN) | XP_016860310.1:p.Cys17475= | |
| XM_017004822.1:c.49467C>T (TTN) | XP_016860311.1:p.Cys16489= | |
| XM_017004823.1:c.31083C>T (TTN) | XP_016860312.1:p.Cys10361= | |
| XM_024453094.1:c.52578C>T (TTN) | XP_024308862.1:p.Cys17526= | |
| XM_024453095.1:c.52575C>T (TTN) | XP_024308863.1:p.Cys17525= | |
| XM_024453096.1:c.52008C>T (TTN) | XP_024308864.1:p.Cys17336= | |
| XM_024453097.1:c.49350C>T (TTN) | XP_024308865.1:p.Cys16450= | |
| XM_024453098.1:c.49269C>T (TTN) | XP_024308866.1:p.Cys16423= | |
| XM_024453099.1:c.31032C>T (TTN) | XP_024308867.1:p.Cys10344= | |
| XM_024453100.1:c.20886C>T (TTN) | XP_024308868.1:p.Cys6962= |