Linked Data
ClinVar Variation Id:
202429
dbSNP Id:
rs794729305
gnomAD v3:
2-178535388-G-A
gnomAD v4:
2-178535388-G-A
PubMed:
PMID:23418287
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535388G>A , CM000664.2:g.178535388G>A | GRCh38 |
| NC_000002.11:g.179400115G>A , CM000664.1:g.179400115G>A | GRCh37 |
| NC_000002.10:g.179108361G>A | NCBI36 |
| NG_011618.3:g.300415C>T , LRG_391:g.300415C>T | |
| NG_051363.1:g.17562G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93523C>T (TTN) | ENSP00000343764.6:p.Arg31175Ter | |
| ENST00000342175.11:c.74608C>T (TTN) | ENSP00000340554.6:p.Arg24870Ter | |
| ENST00000359218.10:c.74407C>T (TTN) | ENSP00000352154.5:p.Arg24803Ter | |
| ENST00000342175.10:c.74608C>T (TTN) | ENSP00000340554.6:p.Arg24870Ter | |
| ENST00000342992.10:c.93523C>T (TTN) | ENSP00000343764.6:p.Arg31175Ter | |
| ENST00000359218.9:c.74407C>T (TTN) | ENSP00000352154.5:p.Arg24803Ter | |
| ENST00000460472.6:c.74032C>T (TTN) | ENSP00000434586.1:p.Arg24678Ter | |
| ENST00000589042.5:c.101227C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg33743Ter | |
| ENST00000591111.5:c.96304C>T (TTN) | ENSP00000465570.1:p.Arg32102Ter | |
| ENST00000615779.4:c.96304C>T (TTN) | ENSP00000483597.1:p.Arg32102Ter | |
| NM_001256850.1:c.96304C>T (TTN) | NP_001243779.1:p.Arg32102Ter | |
| NM_001267550.2:c.101227C>T (TTN) MANE Select | NP_001254479.2:p.Arg33743Ter | |
| NM_003319.4:c.74032C>T (TTN) | NP_003310.4:p.Arg24678Ter | |
| NM_133378.4:c.93523C>T (TTN) | NP_596869.4:p.Arg31175Ter | |
| NM_133432.3:c.74407C>T (TTN) | NP_597676.3:p.Arg24803Ter | |
| NM_133437.4:c.74608C>T (TTN) | NP_597681.4:p.Arg24870Ter | |
| NR_038271.1:n.446+11752G>A (TTN-AS1) | ||
| NR_038272.1:n.220-344G>A (TTN-AS1) | ||
| XM_011511729.1:c.100324C>T (TTN) | XP_011510031.1:p.Arg33442Ter | |
| XM_011511730.1:c.74218C>T (TTN) | XP_011510032.1:p.Arg24740Ter | |
| XM_011511731.1:c.74077C>T (TTN) | XP_011510033.1:p.Arg24693Ter | |
| XM_017004819.1:c.100120C>T (TTN) | XP_016860308.1:p.Arg33374Ter | |
| XM_017004820.1:c.95518C>T (TTN) | XP_016860309.1:p.Arg31840Ter | |
| XM_017004821.1:c.95515C>T (TTN) | XP_016860310.1:p.Arg31839Ter | |
| XM_017004822.1:c.92557C>T (TTN) | XP_016860311.1:p.Arg30853Ter | |
| XM_017004823.1:c.74173C>T (TTN) | XP_016860312.1:p.Arg24725Ter | |
| XM_024453094.1:c.95668C>T (TTN) | XP_024308862.1:p.Arg31890Ter | |
| XM_024453095.1:c.95665C>T (TTN) | XP_024308863.1:p.Arg31889Ter | |
| XM_024453096.1:c.95098C>T (TTN) | XP_024308864.1:p.Arg31700Ter | |
| XM_024453097.1:c.92440C>T (TTN) | XP_024308865.1:p.Arg30814Ter | |
| XM_024453098.1:c.92359C>T (TTN) | XP_024308866.1:p.Arg30787Ter | |
| XM_024453099.1:c.74122C>T (TTN) | XP_024308867.1:p.Arg24708Ter | |
| XM_024453100.1:c.63976C>T (TTN) | XP_024308868.1:p.Arg21326Ter |