Linked Data
ClinVar Variation Id:
47197
ClinVar RCV Id:
RCV000040467
RCV000082417
RCV000143969
RCV000262231
RCV000297845
RCV000312697
RCV000357132
RCV000393151
RCV000619500
RCV000852825
RCV001086280
dbSNP Id:
rs72646855
ExAC:
2:179452447 T / C
gnomAD v2:
2-179452447-T-C
gnomAD v3:
2-178587720-T-C
gnomAD v4:
2-178587720-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587720T>C , CM000664.2:g.178587720T>C | GRCh38 |
| NC_000002.11:g.179452447T>C , CM000664.1:g.179452447T>C | GRCh37 |
| NC_000002.10:g.179160693T>C | NCBI36 |
| NG_011618.3:g.248083A>G , LRG_391:g.248083A>G | |
| NG_051363.1:g.69894T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55885A>G (TTN) | ENSP00000343764.6:p.Ile18629Val | |
| ENST00000342175.11:c.36970A>G (TTN) | ENSP00000340554.6:p.Ile12324Val | |
| ENST00000359218.10:c.36769A>G (TTN) | ENSP00000352154.5:p.Ile12257Val | |
| ENST00000342175.10:c.36970A>G (TTN) | ENSP00000340554.6:p.Ile12324Val | |
| ENST00000342992.10:c.55885A>G (TTN) | ENSP00000343764.6:p.Ile18629Val | |
| ENST00000359218.9:c.36769A>G (TTN) | ENSP00000352154.5:p.Ile12257Val | |
| ENST00000460472.6:c.36394A>G (TTN) | ENSP00000434586.1:p.Ile12132Val | |
| ENST00000589042.5:c.63589A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile21197Val | |
| ENST00000591111.5:c.58666A>G (TTN) | ENSP00000465570.1:p.Ile19556Val | |
| ENST00000615779.4:c.58666A>G (TTN) | ENSP00000483597.1:p.Ile19556Val | |
| NM_001256850.1:c.58666A>G (TTN) | NP_001243779.1:p.Ile19556Val | |
| NM_001267550.2:c.63589A>G (TTN) MANE Select | NP_001254479.2:p.Ile21197Val | |
| NM_003319.4:c.36394A>G (TTN) | NP_003310.4:p.Ile12132Val | |
| NM_133378.4:c.55885A>G (TTN) | NP_596869.4:p.Ile18629Val | |
| NM_133432.3:c.36769A>G (TTN) | NP_597676.3:p.Ile12257Val | |
| NM_133437.4:c.36970A>G (TTN) | NP_597681.4:p.Ile12324Val | |
| NR_038271.1:n.597-9876T>C (TTN-AS1) | ||
| NR_038272.1:n.3188+2727T>C (TTN-AS1) | ||
| XM_011511729.1:c.62686A>G (TTN) | XP_011510031.1:p.Ile20896Val | |
| XM_011511730.1:c.36580A>G (TTN) | XP_011510032.1:p.Ile12194Val | |
| XM_011511731.1:c.36439A>G (TTN) | XP_011510033.1:p.Ile12147Val | |
| XM_017004819.1:c.62482A>G (TTN) | XP_016860308.1:p.Ile20828Val | |
| XM_017004820.1:c.57880A>G (TTN) | XP_016860309.1:p.Ile19294Val | |
| XM_017004821.1:c.57877A>G (TTN) | XP_016860310.1:p.Ile19293Val | |
| XM_017004822.1:c.54919A>G (TTN) | XP_016860311.1:p.Ile18307Val | |
| XM_017004823.1:c.36535A>G (TTN) | XP_016860312.1:p.Ile12179Val | |
| XM_024453094.1:c.58030A>G (TTN) | XP_024308862.1:p.Ile19344Val | |
| XM_024453095.1:c.58027A>G (TTN) | XP_024308863.1:p.Ile19343Val | |
| XM_024453096.1:c.57460A>G (TTN) | XP_024308864.1:p.Ile19154Val | |
| XM_024453097.1:c.54802A>G (TTN) | XP_024308865.1:p.Ile18268Val | |
| XM_024453098.1:c.54721A>G (TTN) | XP_024308866.1:p.Ile18241Val | |
| XM_024453099.1:c.36484A>G (TTN) | XP_024308867.1:p.Ile12162Val | |
| XM_024453100.1:c.26338A>G (TTN) | XP_024308868.1:p.Ile8780Val |