Linked Data
ClinVar Variation Id:
202730
ClinVar RCV Id:
RCV000210582
RCV000725154
RCV001079720
RCV001133603
RCV001133604
RCV001133605
RCV001135094
RCV001133602
RCV001170370
RCV002444754
RCV003226239
RCV004537548
dbSNP Id:
rs374058726
ExAC:
2:179460435 T / C
gnomAD v2:
2-179460435-T-C
gnomAD v3:
2-178595708-T-C
gnomAD v4:
2-178595708-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178595708T>C , CM000664.2:g.178595708T>C | GRCh38 |
| NC_000002.11:g.179460435T>C , CM000664.1:g.179460435T>C | GRCh37 |
| NC_000002.10:g.179168681T>C | NCBI36 |
| NG_011618.3:g.240095A>G , LRG_391:g.240095A>G | |
| NG_051363.1:g.77882T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49942A>G (TTN) | ENSP00000343764.6:p.Ile16648Val | |
| ENST00000342175.11:c.31027A>G (TTN) | ENSP00000340554.6:p.Ile10343Val | |
| ENST00000359218.10:c.30826A>G (TTN) | ENSP00000352154.5:p.Ile10276Val | |
| ENST00000342175.10:c.31027A>G (TTN) | ENSP00000340554.6:p.Ile10343Val | |
| ENST00000342992.10:c.49942A>G (TTN) | ENSP00000343764.6:p.Ile16648Val | |
| ENST00000359218.9:c.30826A>G (TTN) | ENSP00000352154.5:p.Ile10276Val | |
| ENST00000460472.6:c.30451A>G (TTN) | ENSP00000434586.1:p.Ile10151Val | |
| ENST00000589042.5:c.57646A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile19216Val | |
| ENST00000591111.5:c.52723A>G (TTN) | ENSP00000465570.1:p.Ile17575Val | |
| ENST00000615779.4:c.52723A>G (TTN) | ENSP00000483597.1:p.Ile17575Val | |
| NM_001256850.1:c.52723A>G (TTN) | NP_001243779.1:p.Ile17575Val | |
| NM_001267550.2:c.57646A>G (TTN) MANE Select | NP_001254479.2:p.Ile19216Val | |
| NM_003319.4:c.30451A>G (TTN) | NP_003310.4:p.Ile10151Val | |
| NM_133378.4:c.49942A>G (TTN) | NP_596869.4:p.Ile16648Val | |
| NM_133432.3:c.30826A>G (TTN) | NP_597676.3:p.Ile10276Val | |
| NM_133437.4:c.31027A>G (TTN) | NP_597681.4:p.Ile10343Val | |
| NR_038271.1:n.597-1888T>C (TTN-AS1) | ||
| NR_038272.1:n.3365-1888T>C (TTN-AS1) | ||
| XM_011511729.1:c.56743A>G (TTN) | XP_011510031.1:p.Ile18915Val | |
| XM_011511730.1:c.30637A>G (TTN) | XP_011510032.1:p.Ile10213Val | |
| XM_011511731.1:c.30496A>G (TTN) | XP_011510033.1:p.Ile10166Val | |
| XM_017004819.1:c.56539A>G (TTN) | XP_016860308.1:p.Ile18847Val | |
| XM_017004820.1:c.51937A>G (TTN) | XP_016860309.1:p.Ile17313Val | |
| XM_017004821.1:c.51934A>G (TTN) | XP_016860310.1:p.Ile17312Val | |
| XM_017004822.1:c.48976A>G (TTN) | XP_016860311.1:p.Ile16326Val | |
| XM_017004823.1:c.30592A>G (TTN) | XP_016860312.1:p.Ile10198Val | |
| XM_024453094.1:c.52087A>G (TTN) | XP_024308862.1:p.Ile17363Val | |
| XM_024453095.1:c.52084A>G (TTN) | XP_024308863.1:p.Ile17362Val | |
| XM_024453096.1:c.51517A>G (TTN) | XP_024308864.1:p.Ile17173Val | |
| XM_024453097.1:c.48859A>G (TTN) | XP_024308865.1:p.Ile16287Val | |
| XM_024453098.1:c.48778A>G (TTN) | XP_024308866.1:p.Ile16260Val | |
| XM_024453099.1:c.30541A>G (TTN) | XP_024308867.1:p.Ile10181Val | |
| XM_024453100.1:c.20395A>G (TTN) | XP_024308868.1:p.Ile6799Val |