Linked Data
ClinVar Variation Id:
165813
ClinVar RCV Id:
RCV000152207
RCV000273789
RCV000270152
RCV000325455
RCV000364915
RCV000369763
RCV000617421
RCV000471832
RCV000769931
RCV000852807
RCV001530137
RCV004532690
dbSNP Id:
rs201562505
ExAC:
2:179430158 T / C
gnomAD v2:
2-179430158-T-C
gnomAD v3:
2-178565431-T-C
gnomAD v4:
2-178565431-T-C
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565431T>C , CM000664.2:g.178565431T>C | GRCh38 |
| NC_000002.11:g.179430158T>C , CM000664.1:g.179430158T>C | GRCh37 |
| NC_000002.10:g.179138404T>C | NCBI36 |
| NG_011618.3:g.270372A>G , LRG_391:g.270372A>G | |
| NG_051363.1:g.47605T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72997A>G (TTN) | ENSP00000343764.6:p.Ile24333Val | |
| ENST00000342175.11:c.54082A>G (TTN) | ENSP00000340554.6:p.Ile18028Val | |
| ENST00000359218.10:c.53881A>G (TTN) | ENSP00000352154.5:p.Ile17961Val | |
| ENST00000342175.10:c.54082A>G (TTN) | ENSP00000340554.6:p.Ile18028Val | |
| ENST00000342992.10:c.72997A>G (TTN) | ENSP00000343764.6:p.Ile24333Val | |
| ENST00000359218.9:c.53881A>G (TTN) | ENSP00000352154.5:p.Ile17961Val | |
| ENST00000460472.6:c.53506A>G (TTN) | ENSP00000434586.1:p.Ile17836Val | |
| ENST00000589042.5:c.80701A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile26901Val | |
| ENST00000591111.5:c.75778A>G (TTN) | ENSP00000465570.1:p.Ile25260Val | |
| ENST00000615779.4:c.75778A>G (TTN) | ENSP00000483597.1:p.Ile25260Val | |
| NM_001256850.1:c.75778A>G (TTN) | NP_001243779.1:p.Ile25260Val | |
| NM_001267550.2:c.80701A>G (TTN) MANE Select | NP_001254479.2:p.Ile26901Val | |
| NM_003319.4:c.53506A>G (TTN) | NP_003310.4:p.Ile17836Val | |
| NM_133378.4:c.72997A>G (TTN) | NP_596869.4:p.Ile24333Val | |
| NM_133432.3:c.53881A>G (TTN) | NP_597676.3:p.Ile17961Val | |
| NM_133437.4:c.54082A>G (TTN) | NP_597681.4:p.Ile18028Val | |
| NR_038271.1:n.447-5869T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-17141T>C (TTN-AS1) | ||
| XM_011511729.1:c.79798A>G (TTN) | XP_011510031.1:p.Ile26600Val | |
| XM_011511730.1:c.53692A>G (TTN) | XP_011510032.1:p.Ile17898Val | |
| XM_011511731.1:c.53551A>G (TTN) | XP_011510033.1:p.Ile17851Val | |
| XM_017004819.1:c.79594A>G (TTN) | XP_016860308.1:p.Ile26532Val | |
| XM_017004820.1:c.74992A>G (TTN) | XP_016860309.1:p.Ile24998Val | |
| XM_017004821.1:c.74989A>G (TTN) | XP_016860310.1:p.Ile24997Val | |
| XM_017004822.1:c.72031A>G (TTN) | XP_016860311.1:p.Ile24011Val | |
| XM_017004823.1:c.53647A>G (TTN) | XP_016860312.1:p.Ile17883Val | |
| XM_024453094.1:c.75142A>G (TTN) | XP_024308862.1:p.Ile25048Val | |
| XM_024453095.1:c.75139A>G (TTN) | XP_024308863.1:p.Ile25047Val | |
| XM_024453096.1:c.74572A>G (TTN) | XP_024308864.1:p.Ile24858Val | |
| XM_024453097.1:c.71914A>G (TTN) | XP_024308865.1:p.Ile23972Val | |
| XM_024453098.1:c.71833A>G (TTN) | XP_024308866.1:p.Ile23945Val | |
| XM_024453099.1:c.53596A>G (TTN) | XP_024308867.1:p.Ile17866Val | |
| XM_024453100.1:c.43450A>G (TTN) | XP_024308868.1:p.Ile14484Val |