Linked Data
ClinVar Variation Id:
223386
dbSNP Id:
rs869312118
gnomAD v4:
2-178562617-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562617G>A , CM000664.2:g.178562617G>A | GRCh38 |
| NC_000002.11:g.179427344G>A , CM000664.1:g.179427344G>A | GRCh37 |
| NC_000002.10:g.179135590G>A | NCBI36 |
| NG_011618.3:g.273186C>T , LRG_391:g.273186C>T | |
| NG_051363.1:g.44791G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75811C>T (TTN) | ENSP00000343764.6:p.Arg25271Ter | |
| ENST00000342175.11:c.56896C>T (TTN) | ENSP00000340554.6:p.Arg18966Ter | |
| ENST00000359218.10:c.56695C>T (TTN) | ENSP00000352154.5:p.Arg18899Ter | |
| ENST00000342175.10:c.56896C>T (TTN) | ENSP00000340554.6:p.Arg18966Ter | |
| ENST00000342992.10:c.75811C>T (TTN) | ENSP00000343764.6:p.Arg25271Ter | |
| ENST00000359218.9:c.56695C>T (TTN) | ENSP00000352154.5:p.Arg18899Ter | |
| ENST00000460472.6:c.56320C>T (TTN) | ENSP00000434586.1:p.Arg18774Ter | |
| ENST00000589042.5:c.83515C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg27839Ter | |
| ENST00000591111.5:c.78592C>T (TTN) | ENSP00000465570.1:p.Arg26198Ter | |
| ENST00000615779.4:c.78592C>T (TTN) | ENSP00000483597.1:p.Arg26198Ter | |
| NM_001256850.1:c.78592C>T (TTN) | NP_001243779.1:p.Arg26198Ter | |
| NM_001267550.2:c.83515C>T (TTN) MANE Select | NP_001254479.2:p.Arg27839Ter | |
| NM_003319.4:c.56320C>T (TTN) | NP_003310.4:p.Arg18774Ter | |
| NM_133378.4:c.75811C>T (TTN) | NP_596869.4:p.Arg25271Ter | |
| NM_133432.3:c.56695C>T (TTN) | NP_597676.3:p.Arg18899Ter | |
| NM_133437.4:c.56896C>T (TTN) | NP_597681.4:p.Arg18966Ter | |
| NR_038271.1:n.447-8683G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-19955G>A (TTN-AS1) | ||
| XM_011511729.1:c.82612C>T (TTN) | XP_011510031.1:p.Arg27538Ter | |
| XM_011511730.1:c.56506C>T (TTN) | XP_011510032.1:p.Arg18836Ter | |
| XM_011511731.1:c.56365C>T (TTN) | XP_011510033.1:p.Arg18789Ter | |
| XM_017004819.1:c.82408C>T (TTN) | XP_016860308.1:p.Arg27470Ter | |
| XM_017004820.1:c.77806C>T (TTN) | XP_016860309.1:p.Arg25936Ter | |
| XM_017004821.1:c.77803C>T (TTN) | XP_016860310.1:p.Arg25935Ter | |
| XM_017004822.1:c.74845C>T (TTN) | XP_016860311.1:p.Arg24949Ter | |
| XM_017004823.1:c.56461C>T (TTN) | XP_016860312.1:p.Arg18821Ter | |
| XM_024453094.1:c.77956C>T (TTN) | XP_024308862.1:p.Arg25986Ter | |
| XM_024453095.1:c.77953C>T (TTN) | XP_024308863.1:p.Arg25985Ter | |
| XM_024453096.1:c.77386C>T (TTN) | XP_024308864.1:p.Arg25796Ter | |
| XM_024453097.1:c.74728C>T (TTN) | XP_024308865.1:p.Arg24910Ter | |
| XM_024453098.1:c.74647C>T (TTN) | XP_024308866.1:p.Arg24883Ter | |
| XM_024453099.1:c.56410C>T (TTN) | XP_024308867.1:p.Arg18804Ter | |
| XM_024453100.1:c.46264C>T (TTN) | XP_024308868.1:p.Arg15422Ter |