Linked Data
ClinVar Variation Id:
47299
ClinVar RCV Id:
RCV000040569
RCV000284462
RCV000285577
RCV000347647
RCV000372899
RCV000732480
RCV000376588
RCV001083091
RCV002326755
dbSNP Id:
rs56245285
ExAC:
2:179439486 A / C
gnomAD v2:
2-179439486-A-C
gnomAD v3:
2-178574759-A-C
gnomAD v4:
2-178574759-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574759A>C , CM000664.2:g.178574759A>C | GRCh38 |
| NC_000002.11:g.179439486A>C , CM000664.1:g.179439486A>C | GRCh37 |
| NC_000002.10:g.179147732A>C | NCBI36 |
| NG_011618.3:g.261044T>G , LRG_391:g.261044T>G | |
| NG_051363.1:g.56933A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63669T>G (TTN) | ENSP00000343764.6:p.Leu21223= | |
| ENST00000342175.11:c.44754T>G (TTN) | ENSP00000340554.6:p.Leu14918= | |
| ENST00000359218.10:c.44553T>G (TTN) | ENSP00000352154.5:p.Leu14851= | |
| ENST00000342175.10:c.44754T>G (TTN) | ENSP00000340554.6:p.Leu14918= | |
| ENST00000342992.10:c.63669T>G (TTN) | ENSP00000343764.6:p.Leu21223= | |
| ENST00000359218.9:c.44553T>G (TTN) | ENSP00000352154.5:p.Leu14851= | |
| ENST00000460472.6:c.44178T>G (TTN) | ENSP00000434586.1:p.Leu14726= | |
| ENST00000589042.5:c.71373T>G (TTN) MANE Select | ENSP00000467141.1:p.Leu23791= | |
| ENST00000591111.5:c.66450T>G (TTN) | ENSP00000465570.1:p.Leu22150= | |
| ENST00000615779.4:c.66450T>G (TTN) | ENSP00000483597.1:p.Leu22150= | |
| NM_001256850.1:c.66450T>G (TTN) | NP_001243779.1:p.Leu22150= | |
| NM_001267550.2:c.71373T>G (TTN) MANE Select | NP_001254479.2:p.Leu23791= | |
| NM_003319.4:c.44178T>G (TTN) | NP_003310.4:p.Leu14726= | |
| NM_133378.4:c.63669T>G (TTN) | NP_596869.4:p.Leu21223= | |
| NM_133432.3:c.44553T>G (TTN) | NP_597676.3:p.Leu14851= | |
| NM_133437.4:c.44754T>G (TTN) | NP_597681.4:p.Leu14918= | |
| NR_038271.1:n.596+3310A>C (TTN-AS1) | ||
| NR_038272.1:n.2044-7813A>C (TTN-AS1) | ||
| XM_011511729.1:c.70470T>G (TTN) | XP_011510031.1:p.Leu23490= | |
| XM_011511730.1:c.44364T>G (TTN) | XP_011510032.1:p.Leu14788= | |
| XM_011511731.1:c.44223T>G (TTN) | XP_011510033.1:p.Leu14741= | |
| XM_017004819.1:c.70266T>G (TTN) | XP_016860308.1:p.Leu23422= | |
| XM_017004820.1:c.65664T>G (TTN) | XP_016860309.1:p.Leu21888= | |
| XM_017004821.1:c.65661T>G (TTN) | XP_016860310.1:p.Leu21887= | |
| XM_017004822.1:c.62703T>G (TTN) | XP_016860311.1:p.Leu20901= | |
| XM_017004823.1:c.44319T>G (TTN) | XP_016860312.1:p.Leu14773= | |
| XM_024453094.1:c.65814T>G (TTN) | XP_024308862.1:p.Leu21938= | |
| XM_024453095.1:c.65811T>G (TTN) | XP_024308863.1:p.Leu21937= | |
| XM_024453096.1:c.65244T>G (TTN) | XP_024308864.1:p.Leu21748= | |
| XM_024453097.1:c.62586T>G (TTN) | XP_024308865.1:p.Leu20862= | |
| XM_024453098.1:c.62505T>G (TTN) | XP_024308866.1:p.Leu20835= | |
| XM_024453099.1:c.44268T>G (TTN) | XP_024308867.1:p.Leu14756= | |
| XM_024453100.1:c.34122T>G (TTN) | XP_024308868.1:p.Leu11374= |