Linked Data
ClinVar Variation Id:
404883
ClinVar RCV Id:
RCV000461103
RCV001131649
RCV001131650
RCV001131651
RCV001131652
RCV001131653
RCV001798825
RCV003139624
dbSNP Id:
rs780634456
ExAC:
2:179481678 T / C
gnomAD v2:
2-179481678-T-C
gnomAD v3:
2-178616951-T-C
gnomAD v4:
2-178616951-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178616951T>C , CM000664.2:g.178616951T>C | GRCh38 |
| NC_000002.11:g.179481678T>C , CM000664.1:g.179481678T>C | GRCh37 |
| NC_000002.10:g.179189923T>C | NCBI36 |
| NG_011618.3:g.218852A>G , LRG_391:g.218852A>G | |
| NG_051363.1:g.99125T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40234A>G (TTN) | ENSP00000343764.6:p.Ile13412Val | |
| ENST00000342175.11:c.21319A>G (TTN) | ENSP00000340554.6:p.Ile7107Val | |
| ENST00000359218.10:c.21118A>G (TTN) | ENSP00000352154.5:p.Ile7040Val | |
| ENST00000342175.10:c.21319A>G (TTN) | ENSP00000340554.6:p.Ile7107Val | |
| ENST00000342992.10:c.40234A>G (TTN) | ENSP00000343764.6:p.Ile13412Val | |
| ENST00000359218.9:c.21118A>G (TTN) | ENSP00000352154.5:p.Ile7040Val | |
| ENST00000460472.6:c.20743A>G (TTN) | ENSP00000434586.1:p.Ile6915Val | |
| ENST00000589042.5:c.47938A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile15980Val | |
| ENST00000591111.5:c.43015A>G (TTN) | ENSP00000465570.1:p.Ile14339Val | |
| ENST00000615779.4:c.43015A>G (TTN) | ENSP00000483597.1:p.Ile14339Val | |
| NM_001256850.1:c.43015A>G (TTN) | NP_001243779.1:p.Ile14339Val | |
| NM_001267550.2:c.47938A>G (TTN) MANE Select | NP_001254479.2:p.Ile15980Val | |
| NM_003319.4:c.20743A>G (TTN) | NP_003310.4:p.Ile6915Val | |
| NM_133378.4:c.40234A>G (TTN) | NP_596869.4:p.Ile13412Val | |
| NM_133432.3:c.21118A>G (TTN) | NP_597676.3:p.Ile7040Val | |
| NM_133437.4:c.21319A>G (TTN) | NP_597681.4:p.Ile7107Val | |
| NR_038271.1:n.1604+1577T>C (TTN-AS1) | ||
| XM_011511729.1:c.47035A>G (TTN) | XP_011510031.1:p.Ile15679Val | |
| XM_011511730.1:c.20929A>G (TTN) | XP_011510032.1:p.Ile6977Val | |
| XM_011511731.1:c.20788A>G (TTN) | XP_011510033.1:p.Ile6930Val | |
| XM_017004819.1:c.46831A>G (TTN) | XP_016860308.1:p.Ile15611Val | |
| XM_017004820.1:c.42229A>G (TTN) | XP_016860309.1:p.Ile14077Val | |
| XM_017004821.1:c.42226A>G (TTN) | XP_016860310.1:p.Ile14076Val | |
| XM_017004822.1:c.39268A>G (TTN) | XP_016860311.1:p.Ile13090Val | |
| XM_017004823.1:c.20884A>G (TTN) | XP_016860312.1:p.Ile6962Val | |
| XM_024453094.1:c.42379A>G (TTN) | XP_024308862.1:p.Ile14127Val | |
| XM_024453095.1:c.42376A>G (TTN) | XP_024308863.1:p.Ile14126Val | |
| XM_024453096.1:c.41809A>G (TTN) | XP_024308864.1:p.Ile13937Val | |
| XM_024453097.1:c.39151A>G (TTN) | XP_024308865.1:p.Ile13051Val | |
| XM_024453098.1:c.39070A>G (TTN) | XP_024308866.1:p.Ile13024Val | |
| XM_024453099.1:c.20833A>G (TTN) | XP_024308867.1:p.Ile6945Val | |
| XM_024453100.1:c.10687A>G (TTN) | XP_024308868.1:p.Ile3563Val |