Linked Data
ClinVar Variation Id:
238851
ClinVar RCV Id:
RCV000228388
RCV000281514
RCV000306145
RCV000360852
RCV000407672
RCV000406496
RCV001536382
RCV002347880
dbSNP Id:
rs192360370
ExAC:
2:179427779 G / A
gnomAD v2:
2-179427779-G-A
gnomAD v3:
2-178563052-G-A
gnomAD v4:
2-178563052-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563052G>A , CM000664.2:g.178563052G>A | GRCh38 |
| NC_000002.11:g.179427779G>A , CM000664.1:g.179427779G>A | GRCh37 |
| NC_000002.10:g.179136025G>A | NCBI36 |
| NG_011618.3:g.272751C>T , LRG_391:g.272751C>T | |
| NG_051363.1:g.45226G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75376C>T (TTN) | ENSP00000343764.6:p.Arg25126Cys | |
| ENST00000342175.11:c.56461C>T (TTN) | ENSP00000340554.6:p.Arg18821Cys | |
| ENST00000359218.10:c.56260C>T (TTN) | ENSP00000352154.5:p.Arg18754Cys | |
| ENST00000342175.10:c.56461C>T (TTN) | ENSP00000340554.6:p.Arg18821Cys | |
| ENST00000342992.10:c.75376C>T (TTN) | ENSP00000343764.6:p.Arg25126Cys | |
| ENST00000359218.9:c.56260C>T (TTN) | ENSP00000352154.5:p.Arg18754Cys | |
| ENST00000460472.6:c.55885C>T (TTN) | ENSP00000434586.1:p.Arg18629Cys | |
| ENST00000589042.5:c.83080C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg27694Cys | |
| ENST00000591111.5:c.78157C>T (TTN) | ENSP00000465570.1:p.Arg26053Cys | |
| ENST00000615779.4:c.78157C>T (TTN) | ENSP00000483597.1:p.Arg26053Cys | |
| NM_001256850.1:c.78157C>T (TTN) | NP_001243779.1:p.Arg26053Cys | |
| NM_001267550.2:c.83080C>T (TTN) MANE Select | NP_001254479.2:p.Arg27694Cys | |
| NM_003319.4:c.55885C>T (TTN) | NP_003310.4:p.Arg18629Cys | |
| NM_133378.4:c.75376C>T (TTN) | NP_596869.4:p.Arg25126Cys | |
| NM_133432.3:c.56260C>T (TTN) | NP_597676.3:p.Arg18754Cys | |
| NM_133437.4:c.56461C>T (TTN) | NP_597681.4:p.Arg18821Cys | |
| NR_038271.1:n.447-8248G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-19520G>A (TTN-AS1) | ||
| XM_011511729.1:c.82177C>T (TTN) | XP_011510031.1:p.Arg27393Cys | |
| XM_011511730.1:c.56071C>T (TTN) | XP_011510032.1:p.Arg18691Cys | |
| XM_011511731.1:c.55930C>T (TTN) | XP_011510033.1:p.Arg18644Cys | |
| XM_017004819.1:c.81973C>T (TTN) | XP_016860308.1:p.Arg27325Cys | |
| XM_017004820.1:c.77371C>T (TTN) | XP_016860309.1:p.Arg25791Cys | |
| XM_017004821.1:c.77368C>T (TTN) | XP_016860310.1:p.Arg25790Cys | |
| XM_017004822.1:c.74410C>T (TTN) | XP_016860311.1:p.Arg24804Cys | |
| XM_017004823.1:c.56026C>T (TTN) | XP_016860312.1:p.Arg18676Cys | |
| XM_024453094.1:c.77521C>T (TTN) | XP_024308862.1:p.Arg25841Cys | |
| XM_024453095.1:c.77518C>T (TTN) | XP_024308863.1:p.Arg25840Cys | |
| XM_024453096.1:c.76951C>T (TTN) | XP_024308864.1:p.Arg25651Cys | |
| XM_024453097.1:c.74293C>T (TTN) | XP_024308865.1:p.Arg24765Cys | |
| XM_024453098.1:c.74212C>T (TTN) | XP_024308866.1:p.Arg24738Cys | |
| XM_024453099.1:c.55975C>T (TTN) | XP_024308867.1:p.Arg18659Cys | |
| XM_024453100.1:c.45829C>T (TTN) | XP_024308868.1:p.Arg15277Cys |