Linked Data
ClinVar Variation Id:
467385
dbSNP Id:
rs577114038
ExAC:
2:179447197 G / A
gnomAD v2:
2-179447197-G-A
gnomAD v3:
2-178582470-G-A
gnomAD v4:
2-178582470-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178582470G>A , CM000664.2:g.178582470G>A | GRCh38 |
| NC_000002.11:g.179447197G>A , CM000664.1:g.179447197G>A | GRCh37 |
| NC_000002.10:g.179155443G>A | NCBI36 |
| NG_011618.3:g.253333C>T , LRG_391:g.253333C>T | |
| NG_051363.1:g.64644G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58282C>T (TTN) | ENSP00000343764.6:p.Arg19428Cys | |
| ENST00000342175.11:c.39367C>T (TTN) | ENSP00000340554.6:p.Arg13123Cys | |
| ENST00000359218.10:c.39166C>T (TTN) | ENSP00000352154.5:p.Arg13056Cys | |
| ENST00000342175.10:c.39367C>T (TTN) | ENSP00000340554.6:p.Arg13123Cys | |
| ENST00000342992.10:c.58282C>T (TTN) | ENSP00000343764.6:p.Arg19428Cys | |
| ENST00000359218.9:c.39166C>T (TTN) | ENSP00000352154.5:p.Arg13056Cys | |
| ENST00000460472.6:c.38791C>T (TTN) | ENSP00000434586.1:p.Arg12931Cys | |
| ENST00000589042.5:c.65986C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg21996Cys | |
| ENST00000591111.5:c.61063C>T (TTN) | ENSP00000465570.1:p.Arg20355Cys | |
| ENST00000615779.4:c.61063C>T (TTN) | ENSP00000483597.1:p.Arg20355Cys | |
| NM_001256850.1:c.61063C>T (TTN) | NP_001243779.1:p.Arg20355Cys | |
| NM_001267550.2:c.65986C>T (TTN) MANE Select | NP_001254479.2:p.Arg21996Cys | |
| NM_003319.4:c.38791C>T (TTN) | NP_003310.4:p.Arg12931Cys | |
| NM_133378.4:c.58282C>T (TTN) | NP_596869.4:p.Arg19428Cys | |
| NM_133432.3:c.39166C>T (TTN) | NP_597676.3:p.Arg13056Cys | |
| NM_133437.4:c.39367C>T (TTN) | NP_597681.4:p.Arg13123Cys | |
| NR_038271.1:n.596+11021G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-102G>A (TTN-AS1) | ||
| XM_011511729.1:c.65083C>T (TTN) | XP_011510031.1:p.Arg21695Cys | |
| XM_011511730.1:c.38977C>T (TTN) | XP_011510032.1:p.Arg12993Cys | |
| XM_011511731.1:c.38836C>T (TTN) | XP_011510033.1:p.Arg12946Cys | |
| XM_017004819.1:c.64879C>T (TTN) | XP_016860308.1:p.Arg21627Cys | |
| XM_017004820.1:c.60277C>T (TTN) | XP_016860309.1:p.Arg20093Cys | |
| XM_017004821.1:c.60274C>T (TTN) | XP_016860310.1:p.Arg20092Cys | |
| XM_017004822.1:c.57316C>T (TTN) | XP_016860311.1:p.Arg19106Cys | |
| XM_017004823.1:c.38932C>T (TTN) | XP_016860312.1:p.Arg12978Cys | |
| XM_024453094.1:c.60427C>T (TTN) | XP_024308862.1:p.Arg20143Cys | |
| XM_024453095.1:c.60424C>T (TTN) | XP_024308863.1:p.Arg20142Cys | |
| XM_024453096.1:c.59857C>T (TTN) | XP_024308864.1:p.Arg19953Cys | |
| XM_024453097.1:c.57199C>T (TTN) | XP_024308865.1:p.Arg19067Cys | |
| XM_024453098.1:c.57118C>T (TTN) | XP_024308866.1:p.Arg19040Cys | |
| XM_024453099.1:c.38881C>T (TTN) | XP_024308867.1:p.Arg12961Cys | |
| XM_024453100.1:c.28735C>T (TTN) | XP_024308868.1:p.Arg9579Cys |