Linked Data
ClinVar Variation Id:
165881
dbSNP Id:
rs563233842
ExAC:
2:179444480 G / A
gnomAD v2:
2-179444480-G-A
gnomAD v3:
2-178579753-G-A
gnomAD v4:
2-178579753-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178579753G>A , CM000664.2:g.178579753G>A | GRCh38 |
| NC_000002.11:g.179444480G>A , CM000664.1:g.179444480G>A | GRCh37 |
| NC_000002.10:g.179152726G>A | NCBI36 |
| NG_011618.3:g.256050C>T , LRG_391:g.256050C>T | |
| NG_051363.1:g.61927G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59740C>T (TTN) | ENSP00000343764.6:p.Arg19914Trp | |
| ENST00000342175.11:c.40825C>T (TTN) | ENSP00000340554.6:p.Arg13609Trp | |
| ENST00000359218.10:c.40624C>T (TTN) | ENSP00000352154.5:p.Arg13542Trp | |
| ENST00000342175.10:c.40825C>T (TTN) | ENSP00000340554.6:p.Arg13609Trp | |
| ENST00000342992.10:c.59740C>T (TTN) | ENSP00000343764.6:p.Arg19914Trp | |
| ENST00000359218.9:c.40624C>T (TTN) | ENSP00000352154.5:p.Arg13542Trp | |
| ENST00000460472.6:c.40249C>T (TTN) | ENSP00000434586.1:p.Arg13417Trp | |
| ENST00000589042.5:c.67444C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg22482Trp | |
| ENST00000591111.5:c.62521C>T (TTN) | ENSP00000465570.1:p.Arg20841Trp | |
| ENST00000615779.4:c.62521C>T (TTN) | ENSP00000483597.1:p.Arg20841Trp | |
| NM_001256850.1:c.62521C>T (TTN) | NP_001243779.1:p.Arg20841Trp | |
| NM_001267550.2:c.67444C>T (TTN) MANE Select | NP_001254479.2:p.Arg22482Trp | |
| NM_003319.4:c.40249C>T (TTN) | NP_003310.4:p.Arg13417Trp | |
| NM_133378.4:c.59740C>T (TTN) | NP_596869.4:p.Arg19914Trp | |
| NM_133432.3:c.40624C>T (TTN) | NP_597676.3:p.Arg13542Trp | |
| NM_133437.4:c.40825C>T (TTN) | NP_597681.4:p.Arg13609Trp | |
| NR_038271.1:n.596+8304G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-2819G>A (TTN-AS1) | ||
| XM_011511729.1:c.66541C>T (TTN) | XP_011510031.1:p.Arg22181Trp | |
| XM_011511730.1:c.40435C>T (TTN) | XP_011510032.1:p.Arg13479Trp | |
| XM_011511731.1:c.40294C>T (TTN) | XP_011510033.1:p.Arg13432Trp | |
| XM_017004819.1:c.66337C>T (TTN) | XP_016860308.1:p.Arg22113Trp | |
| XM_017004820.1:c.61735C>T (TTN) | XP_016860309.1:p.Arg20579Trp | |
| XM_017004821.1:c.61732C>T (TTN) | XP_016860310.1:p.Arg20578Trp | |
| XM_017004822.1:c.58774C>T (TTN) | XP_016860311.1:p.Arg19592Trp | |
| XM_017004823.1:c.40390C>T (TTN) | XP_016860312.1:p.Arg13464Trp | |
| XM_024453094.1:c.61885C>T (TTN) | XP_024308862.1:p.Arg20629Trp | |
| XM_024453095.1:c.61882C>T (TTN) | XP_024308863.1:p.Arg20628Trp | |
| XM_024453096.1:c.61315C>T (TTN) | XP_024308864.1:p.Arg20439Trp | |
| XM_024453097.1:c.58657C>T (TTN) | XP_024308865.1:p.Arg19553Trp | |
| XM_024453098.1:c.58576C>T (TTN) | XP_024308866.1:p.Arg19526Trp | |
| XM_024453099.1:c.40339C>T (TTN) | XP_024308867.1:p.Arg13447Trp | |
| XM_024453100.1:c.30193C>T (TTN) | XP_024308868.1:p.Arg10065Trp |