Linked Data
ClinVar Variation Id:
191823
dbSNP Id:
rs72629782
ExAC:
2:179399634 C / T
gnomAD v2:
2-179399634-C-T
gnomAD v3:
2-178534907-C-T
gnomAD v4:
2-178534907-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178534907C>T , CM000664.2:g.178534907C>T | GRCh38 |
| NC_000002.11:g.179399634C>T , CM000664.1:g.179399634C>T | GRCh37 |
| NC_000002.10:g.179107880C>T | NCBI36 |
| NG_011618.3:g.300896G>A , LRG_391:g.300896G>A | |
| NG_051363.1:g.17081C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.94004G>A (TTN) | ENSP00000343764.6:p.Arg31335His | |
| ENST00000342175.11:c.75089G>A (TTN) | ENSP00000340554.6:p.Arg25030His | |
| ENST00000359218.10:c.74888G>A (TTN) | ENSP00000352154.5:p.Arg24963His | |
| ENST00000342175.10:c.75089G>A (TTN) | ENSP00000340554.6:p.Arg25030His | |
| ENST00000342992.10:c.94004G>A (TTN) | ENSP00000343764.6:p.Arg31335His | |
| ENST00000359218.9:c.74888G>A (TTN) | ENSP00000352154.5:p.Arg24963His | |
| ENST00000460472.6:c.74513G>A (TTN) | ENSP00000434586.1:p.Arg24838His | |
| ENST00000589042.5:c.101708G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg33903His | |
| ENST00000591111.5:c.96785G>A (TTN) | ENSP00000465570.1:p.Arg32262His | |
| ENST00000615779.4:c.96785G>A (TTN) | ENSP00000483597.1:p.Arg32262His | |
| NM_001256850.1:c.96785G>A (TTN) | NP_001243779.1:p.Arg32262His | |
| NM_001267550.2:c.101708G>A (TTN) MANE Select | NP_001254479.2:p.Arg33903His | |
| NM_003319.4:c.74513G>A (TTN) | NP_003310.4:p.Arg24838His | |
| NM_133378.4:c.94004G>A (TTN) | NP_596869.4:p.Arg31335His | |
| NM_133432.3:c.74888G>A (TTN) | NP_597676.3:p.Arg24963His | |
| NM_133437.4:c.75089G>A (TTN) | NP_597681.4:p.Arg25030His | |
| NR_038271.1:n.446+11271C>T (TTN-AS1) | ||
| NR_038272.1:n.220-825C>T (TTN-AS1) | ||
| XM_011511729.1:c.100805G>A (TTN) | XP_011510031.1:p.Arg33602His | |
| XM_011511730.1:c.74699G>A (TTN) | XP_011510032.1:p.Arg24900His | |
| XM_011511731.1:c.74558G>A (TTN) | XP_011510033.1:p.Arg24853His | |
| XM_017004819.1:c.100601G>A (TTN) | XP_016860308.1:p.Arg33534His | |
| XM_017004820.1:c.95999G>A (TTN) | XP_016860309.1:p.Arg32000His | |
| XM_017004821.1:c.95996G>A (TTN) | XP_016860310.1:p.Arg31999His | |
| XM_017004822.1:c.93038G>A (TTN) | XP_016860311.1:p.Arg31013His | |
| XM_017004823.1:c.74654G>A (TTN) | XP_016860312.1:p.Arg24885His | |
| XM_024453094.1:c.96149G>A (TTN) | XP_024308862.1:p.Arg32050His | |
| XM_024453095.1:c.96146G>A (TTN) | XP_024308863.1:p.Arg32049His | |
| XM_024453096.1:c.95579G>A (TTN) | XP_024308864.1:p.Arg31860His | |
| XM_024453097.1:c.92921G>A (TTN) | XP_024308865.1:p.Arg30974His | |
| XM_024453098.1:c.92840G>A (TTN) | XP_024308866.1:p.Arg30947His | |
| XM_024453099.1:c.74603G>A (TTN) | XP_024308867.1:p.Arg24868His | |
| XM_024453100.1:c.64457G>A (TTN) | XP_024308868.1:p.Arg21486His |