Linked Data
ClinVar Variation Id:
178183
ClinVar RCV Id:
RCV000154910
RCV000172226
RCV000225816
RCV000348240
RCV000295690
RCV000299304
RCV000404249
RCV000356815
RCV002345503
dbSNP Id:
rs201348580
ExAC:
2:179426711 T / C
gnomAD v2:
2-179426711-T-C
gnomAD v3:
2-178561984-T-C
gnomAD v4:
2-178561984-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561984T>C , CM000664.2:g.178561984T>C | GRCh38 |
| NC_000002.11:g.179426711T>C , CM000664.1:g.179426711T>C | GRCh37 |
| NC_000002.10:g.179134957T>C | NCBI36 |
| NG_011618.3:g.273819A>G , LRG_391:g.273819A>G | |
| NG_051363.1:g.44158T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76444A>G (TTN) | ENSP00000343764.6:p.Ile25482Val | |
| ENST00000342175.11:c.57529A>G (TTN) | ENSP00000340554.6:p.Ile19177Val | |
| ENST00000359218.10:c.57328A>G (TTN) | ENSP00000352154.5:p.Ile19110Val | |
| ENST00000342175.10:c.57529A>G (TTN) | ENSP00000340554.6:p.Ile19177Val | |
| ENST00000342992.10:c.76444A>G (TTN) | ENSP00000343764.6:p.Ile25482Val | |
| ENST00000359218.9:c.57328A>G (TTN) | ENSP00000352154.5:p.Ile19110Val | |
| ENST00000460472.6:c.56953A>G (TTN) | ENSP00000434586.1:p.Ile18985Val | |
| ENST00000589042.5:c.84148A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile28050Val | |
| ENST00000591111.5:c.79225A>G (TTN) | ENSP00000465570.1:p.Ile26409Val | |
| ENST00000615779.4:c.79225A>G (TTN) | ENSP00000483597.1:p.Ile26409Val | |
| NM_001256850.1:c.79225A>G (TTN) | NP_001243779.1:p.Ile26409Val | |
| NM_001267550.2:c.84148A>G (TTN) MANE Select | NP_001254479.2:p.Ile28050Val | |
| NM_003319.4:c.56953A>G (TTN) | NP_003310.4:p.Ile18985Val | |
| NM_133378.4:c.76444A>G (TTN) | NP_596869.4:p.Ile25482Val | |
| NM_133432.3:c.57328A>G (TTN) | NP_597676.3:p.Ile19110Val | |
| NM_133437.4:c.57529A>G (TTN) | NP_597681.4:p.Ile19177Val | |
| NR_038271.1:n.447-9316T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+19623T>C (TTN-AS1) | ||
| XM_011511729.1:c.83245A>G (TTN) | XP_011510031.1:p.Ile27749Val | |
| XM_011511730.1:c.57139A>G (TTN) | XP_011510032.1:p.Ile19047Val | |
| XM_011511731.1:c.56998A>G (TTN) | XP_011510033.1:p.Ile19000Val | |
| XM_017004819.1:c.83041A>G (TTN) | XP_016860308.1:p.Ile27681Val | |
| XM_017004820.1:c.78439A>G (TTN) | XP_016860309.1:p.Ile26147Val | |
| XM_017004821.1:c.78436A>G (TTN) | XP_016860310.1:p.Ile26146Val | |
| XM_017004822.1:c.75478A>G (TTN) | XP_016860311.1:p.Ile25160Val | |
| XM_017004823.1:c.57094A>G (TTN) | XP_016860312.1:p.Ile19032Val | |
| XM_024453094.1:c.78589A>G (TTN) | XP_024308862.1:p.Ile26197Val | |
| XM_024453095.1:c.78586A>G (TTN) | XP_024308863.1:p.Ile26196Val | |
| XM_024453096.1:c.78019A>G (TTN) | XP_024308864.1:p.Ile26007Val | |
| XM_024453097.1:c.75361A>G (TTN) | XP_024308865.1:p.Ile25121Val | |
| XM_024453098.1:c.75280A>G (TTN) | XP_024308866.1:p.Ile25094Val | |
| XM_024453099.1:c.57043A>G (TTN) | XP_024308867.1:p.Ile19015Val | |
| XM_024453100.1:c.46897A>G (TTN) | XP_024308868.1:p.Ile15633Val |