Linked Data
ClinVar Variation Id:
404838
dbSNP Id:
rs527624888
ExAC:
2:179427230 G / A
gnomAD v2:
2-179427230-G-A
gnomAD v3:
2-178562503-G-A
gnomAD v4:
2-178562503-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562503G>A , CM000664.2:g.178562503G>A | GRCh38 |
| NC_000002.11:g.179427230G>A , CM000664.1:g.179427230G>A | GRCh37 |
| NC_000002.10:g.179135476G>A | NCBI36 |
| NG_011618.3:g.273300C>T , LRG_391:g.273300C>T | |
| NG_051363.1:g.44677G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75925C>T (TTN) | ENSP00000343764.6:p.Arg25309Cys | |
| ENST00000342175.11:c.57010C>T (TTN) | ENSP00000340554.6:p.Arg19004Cys | |
| ENST00000359218.10:c.56809C>T (TTN) | ENSP00000352154.5:p.Arg18937Cys | |
| ENST00000342175.10:c.57010C>T (TTN) | ENSP00000340554.6:p.Arg19004Cys | |
| ENST00000342992.10:c.75925C>T (TTN) | ENSP00000343764.6:p.Arg25309Cys | |
| ENST00000359218.9:c.56809C>T (TTN) | ENSP00000352154.5:p.Arg18937Cys | |
| ENST00000460472.6:c.56434C>T (TTN) | ENSP00000434586.1:p.Arg18812Cys | |
| ENST00000589042.5:c.83629C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg27877Cys | |
| ENST00000591111.5:c.78706C>T (TTN) | ENSP00000465570.1:p.Arg26236Cys | |
| ENST00000615779.4:c.78706C>T (TTN) | ENSP00000483597.1:p.Arg26236Cys | |
| NM_001256850.1:c.78706C>T (TTN) | NP_001243779.1:p.Arg26236Cys | |
| NM_001267550.2:c.83629C>T (TTN) MANE Select | NP_001254479.2:p.Arg27877Cys | |
| NM_003319.4:c.56434C>T (TTN) | NP_003310.4:p.Arg18812Cys | |
| NM_133378.4:c.75925C>T (TTN) | NP_596869.4:p.Arg25309Cys | |
| NM_133432.3:c.56809C>T (TTN) | NP_597676.3:p.Arg18937Cys | |
| NM_133437.4:c.57010C>T (TTN) | NP_597681.4:p.Arg19004Cys | |
| NR_038271.1:n.447-8797G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-20069G>A (TTN-AS1) | ||
| XM_011511729.1:c.82726C>T (TTN) | XP_011510031.1:p.Arg27576Cys | |
| XM_011511730.1:c.56620C>T (TTN) | XP_011510032.1:p.Arg18874Cys | |
| XM_011511731.1:c.56479C>T (TTN) | XP_011510033.1:p.Arg18827Cys | |
| XM_017004819.1:c.82522C>T (TTN) | XP_016860308.1:p.Arg27508Cys | |
| XM_017004820.1:c.77920C>T (TTN) | XP_016860309.1:p.Arg25974Cys | |
| XM_017004821.1:c.77917C>T (TTN) | XP_016860310.1:p.Arg25973Cys | |
| XM_017004822.1:c.74959C>T (TTN) | XP_016860311.1:p.Arg24987Cys | |
| XM_017004823.1:c.56575C>T (TTN) | XP_016860312.1:p.Arg18859Cys | |
| XM_024453094.1:c.78070C>T (TTN) | XP_024308862.1:p.Arg26024Cys | |
| XM_024453095.1:c.78067C>T (TTN) | XP_024308863.1:p.Arg26023Cys | |
| XM_024453096.1:c.77500C>T (TTN) | XP_024308864.1:p.Arg25834Cys | |
| XM_024453097.1:c.74842C>T (TTN) | XP_024308865.1:p.Arg24948Cys | |
| XM_024453098.1:c.74761C>T (TTN) | XP_024308866.1:p.Arg24921Cys | |
| XM_024453099.1:c.56524C>T (TTN) | XP_024308867.1:p.Arg18842Cys | |
| XM_024453100.1:c.46378C>T (TTN) | XP_024308868.1:p.Arg15460Cys |