Linked Data
ClinVar Variation Id:
264324
dbSNP Id:
rs749633038
ExAC:
2:179425883 G / A
gnomAD v2:
2-179425883-G-A
gnomAD v3:
2-178561156-G-A
gnomAD v4:
2-178561156-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561156G>A , CM000664.2:g.178561156G>A | GRCh38 |
| NC_000002.11:g.179425883G>A , CM000664.1:g.179425883G>A | GRCh37 |
| NC_000002.10:g.179134129G>A | NCBI36 |
| NG_011618.3:g.274647C>T , LRG_391:g.274647C>T | |
| NG_051363.1:g.43330G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77272C>T (TTN) | ENSP00000343764.6:p.Arg25758Trp | |
| ENST00000342175.11:c.58357C>T (TTN) | ENSP00000340554.6:p.Arg19453Trp | |
| ENST00000359218.10:c.58156C>T (TTN) | ENSP00000352154.5:p.Arg19386Trp | |
| ENST00000342175.10:c.58357C>T (TTN) | ENSP00000340554.6:p.Arg19453Trp | |
| ENST00000342992.10:c.77272C>T (TTN) | ENSP00000343764.6:p.Arg25758Trp | |
| ENST00000359218.9:c.58156C>T (TTN) | ENSP00000352154.5:p.Arg19386Trp | |
| ENST00000460472.6:c.57781C>T (TTN) | ENSP00000434586.1:p.Arg19261Trp | |
| ENST00000589042.5:c.84976C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg28326Trp | |
| ENST00000591111.5:c.80053C>T (TTN) | ENSP00000465570.1:p.Arg26685Trp | |
| ENST00000615779.4:c.80053C>T (TTN) | ENSP00000483597.1:p.Arg26685Trp | |
| NM_001256850.1:c.80053C>T (TTN) | NP_001243779.1:p.Arg26685Trp | |
| NM_001267550.2:c.84976C>T (TTN) MANE Select | NP_001254479.2:p.Arg28326Trp | |
| NM_003319.4:c.57781C>T (TTN) | NP_003310.4:p.Arg19261Trp | |
| NM_133378.4:c.77272C>T (TTN) | NP_596869.4:p.Arg25758Trp | |
| NM_133432.3:c.58156C>T (TTN) | NP_597676.3:p.Arg19386Trp | |
| NM_133437.4:c.58357C>T (TTN) | NP_597681.4:p.Arg19453Trp | |
| NR_038271.1:n.447-10144G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+18795G>A (TTN-AS1) | ||
| XM_011511729.1:c.84073C>T (TTN) | XP_011510031.1:p.Arg28025Trp | |
| XM_011511730.1:c.57967C>T (TTN) | XP_011510032.1:p.Arg19323Trp | |
| XM_011511731.1:c.57826C>T (TTN) | XP_011510033.1:p.Arg19276Trp | |
| XM_017004819.1:c.83869C>T (TTN) | XP_016860308.1:p.Arg27957Trp | |
| XM_017004820.1:c.79267C>T (TTN) | XP_016860309.1:p.Arg26423Trp | |
| XM_017004821.1:c.79264C>T (TTN) | XP_016860310.1:p.Arg26422Trp | |
| XM_017004822.1:c.76306C>T (TTN) | XP_016860311.1:p.Arg25436Trp | |
| XM_017004823.1:c.57922C>T (TTN) | XP_016860312.1:p.Arg19308Trp | |
| XM_024453094.1:c.79417C>T (TTN) | XP_024308862.1:p.Arg26473Trp | |
| XM_024453095.1:c.79414C>T (TTN) | XP_024308863.1:p.Arg26472Trp | |
| XM_024453096.1:c.78847C>T (TTN) | XP_024308864.1:p.Arg26283Trp | |
| XM_024453097.1:c.76189C>T (TTN) | XP_024308865.1:p.Arg25397Trp | |
| XM_024453098.1:c.76108C>T (TTN) | XP_024308866.1:p.Arg25370Trp | |
| XM_024453099.1:c.57871C>T (TTN) | XP_024308867.1:p.Arg19291Trp | |
| XM_024453100.1:c.47725C>T (TTN) | XP_024308868.1:p.Arg15909Trp |