Linked Data
ClinVar Variation Id:
223288
dbSNP Id:
rs869312055
gnomAD v2:
2-179455521-G-A
gnomAD v4:
2-178590794-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590794G>A , CM000664.2:g.178590794G>A | GRCh38 |
| NC_000002.11:g.179455521G>A , CM000664.1:g.179455521G>A | GRCh37 |
| NC_000002.10:g.179163767G>A | NCBI36 |
| NG_011618.3:g.245009C>T , LRG_391:g.245009C>T | |
| NG_051363.1:g.72968G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53227C>T (TTN) | ENSP00000343764.6:p.Arg17743Ter | |
| ENST00000342175.11:c.34312C>T (TTN) | ENSP00000340554.6:p.Arg11438Ter | |
| ENST00000359218.10:c.34111C>T (TTN) | ENSP00000352154.5:p.Arg11371Ter | |
| ENST00000342175.10:c.34312C>T (TTN) | ENSP00000340554.6:p.Arg11438Ter | |
| ENST00000342992.10:c.53227C>T (TTN) | ENSP00000343764.6:p.Arg17743Ter | |
| ENST00000359218.9:c.34111C>T (TTN) | ENSP00000352154.5:p.Arg11371Ter | |
| ENST00000460472.6:c.33736C>T (TTN) | ENSP00000434586.1:p.Arg11246Ter | |
| ENST00000589042.5:c.60931C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg20311Ter | |
| ENST00000591111.5:c.56008C>T (TTN) | ENSP00000465570.1:p.Arg18670Ter | |
| ENST00000615779.4:c.56008C>T (TTN) | ENSP00000483597.1:p.Arg18670Ter | |
| NM_001256850.1:c.56008C>T (TTN) | NP_001243779.1:p.Arg18670Ter | |
| NM_001267550.2:c.60931C>T (TTN) MANE Select | NP_001254479.2:p.Arg20311Ter | |
| NM_003319.4:c.33736C>T (TTN) | NP_003310.4:p.Arg11246Ter | |
| NM_133378.4:c.53227C>T (TTN) | NP_596869.4:p.Arg17743Ter | |
| NM_133432.3:c.34111C>T (TTN) | NP_597676.3:p.Arg11371Ter | |
| NM_133437.4:c.34312C>T (TTN) | NP_597681.4:p.Arg11438Ter | |
| NR_038271.1:n.597-6802G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-345G>A (TTN-AS1) | ||
| XM_011511729.1:c.60028C>T (TTN) | XP_011510031.1:p.Arg20010Ter | |
| XM_011511730.1:c.33922C>T (TTN) | XP_011510032.1:p.Arg11308Ter | |
| XM_011511731.1:c.33781C>T (TTN) | XP_011510033.1:p.Arg11261Ter | |
| XM_017004819.1:c.59824C>T (TTN) | XP_016860308.1:p.Arg19942Ter | |
| XM_017004820.1:c.55222C>T (TTN) | XP_016860309.1:p.Arg18408Ter | |
| XM_017004821.1:c.55219C>T (TTN) | XP_016860310.1:p.Arg18407Ter | |
| XM_017004822.1:c.52261C>T (TTN) | XP_016860311.1:p.Arg17421Ter | |
| XM_017004823.1:c.33877C>T (TTN) | XP_016860312.1:p.Arg11293Ter | |
| XM_024453094.1:c.55372C>T (TTN) | XP_024308862.1:p.Arg18458Ter | |
| XM_024453095.1:c.55369C>T (TTN) | XP_024308863.1:p.Arg18457Ter | |
| XM_024453096.1:c.54802C>T (TTN) | XP_024308864.1:p.Arg18268Ter | |
| XM_024453097.1:c.52144C>T (TTN) | XP_024308865.1:p.Arg17382Ter | |
| XM_024453098.1:c.52063C>T (TTN) | XP_024308866.1:p.Arg17355Ter | |
| XM_024453099.1:c.33826C>T (TTN) | XP_024308867.1:p.Arg11276Ter | |
| XM_024453100.1:c.23680C>T (TTN) | XP_024308868.1:p.Arg7894Ter |