Linked Data
ClinVar Variation Id:
229491
dbSNP Id:
rs199643269
ExAC:
2:179446924 G / A
gnomAD v2:
2-179446924-G-A
gnomAD v3:
2-178582197-G-A
gnomAD v4:
2-178582197-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178582197G>A , CM000664.2:g.178582197G>A | GRCh38 |
| NC_000002.11:g.179446924G>A , CM000664.1:g.179446924G>A | GRCh37 |
| NC_000002.10:g.179155170G>A | NCBI36 |
| NG_011618.3:g.253606C>T , LRG_391:g.253606C>T | |
| NG_051363.1:g.64371G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58468C>T (TTN) | ENSP00000343764.6:p.Arg19490Cys | |
| ENST00000342175.11:c.39553C>T (TTN) | ENSP00000340554.6:p.Arg13185Cys | |
| ENST00000359218.10:c.39352C>T (TTN) | ENSP00000352154.5:p.Arg13118Cys | |
| ENST00000342175.10:c.39553C>T (TTN) | ENSP00000340554.6:p.Arg13185Cys | |
| ENST00000342992.10:c.58468C>T (TTN) | ENSP00000343764.6:p.Arg19490Cys | |
| ENST00000359218.9:c.39352C>T (TTN) | ENSP00000352154.5:p.Arg13118Cys | |
| ENST00000460472.6:c.38977C>T (TTN) | ENSP00000434586.1:p.Arg12993Cys | |
| ENST00000589042.5:c.66172C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg22058Cys | |
| ENST00000591111.5:c.61249C>T (TTN) | ENSP00000465570.1:p.Arg20417Cys | |
| ENST00000615779.4:c.61249C>T (TTN) | ENSP00000483597.1:p.Arg20417Cys | |
| NM_001256850.1:c.61249C>T (TTN) | NP_001243779.1:p.Arg20417Cys | |
| NM_001267550.2:c.66172C>T (TTN) MANE Select | NP_001254479.2:p.Arg22058Cys | |
| NM_003319.4:c.38977C>T (TTN) | NP_003310.4:p.Arg12993Cys | |
| NM_133378.4:c.58468C>T (TTN) | NP_596869.4:p.Arg19490Cys | |
| NM_133432.3:c.39352C>T (TTN) | NP_597676.3:p.Arg13118Cys | |
| NM_133437.4:c.39553C>T (TTN) | NP_597681.4:p.Arg13185Cys | |
| NR_038271.1:n.596+10748G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-375G>A (TTN-AS1) | ||
| XM_011511729.1:c.65269C>T (TTN) | XP_011510031.1:p.Arg21757Cys | |
| XM_011511730.1:c.39163C>T (TTN) | XP_011510032.1:p.Arg13055Cys | |
| XM_011511731.1:c.39022C>T (TTN) | XP_011510033.1:p.Arg13008Cys | |
| XM_017004819.1:c.65065C>T (TTN) | XP_016860308.1:p.Arg21689Cys | |
| XM_017004820.1:c.60463C>T (TTN) | XP_016860309.1:p.Arg20155Cys | |
| XM_017004821.1:c.60460C>T (TTN) | XP_016860310.1:p.Arg20154Cys | |
| XM_017004822.1:c.57502C>T (TTN) | XP_016860311.1:p.Arg19168Cys | |
| XM_017004823.1:c.39118C>T (TTN) | XP_016860312.1:p.Arg13040Cys | |
| XM_024453094.1:c.60613C>T (TTN) | XP_024308862.1:p.Arg20205Cys | |
| XM_024453095.1:c.60610C>T (TTN) | XP_024308863.1:p.Arg20204Cys | |
| XM_024453096.1:c.60043C>T (TTN) | XP_024308864.1:p.Arg20015Cys | |
| XM_024453097.1:c.57385C>T (TTN) | XP_024308865.1:p.Arg19129Cys | |
| XM_024453098.1:c.57304C>T (TTN) | XP_024308866.1:p.Arg19102Cys | |
| XM_024453099.1:c.39067C>T (TTN) | XP_024308867.1:p.Arg13023Cys | |
| XM_024453100.1:c.28921C>T (TTN) | XP_024308868.1:p.Arg9641Cys |