Linked Data
ClinVar Variation Id:
390824
dbSNP Id:
rs1057523898
gnomAD v3:
2-178614554-A-G
gnomAD v4:
2-178614554-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614554A>G , CM000664.2:g.178614554A>G | GRCh38 |
| NC_000002.11:g.179479281A>G , CM000664.1:g.179479281A>G | GRCh37 |
| NC_000002.10:g.179187526A>G | NCBI36 |
| NG_011618.3:g.221249T>C , LRG_391:g.221249T>C | |
| NG_051363.1:g.96728A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41256T>C (TTN) | ENSP00000343764.6:p.Asp13752= | |
| ENST00000342175.11:c.22341T>C (TTN) | ENSP00000340554.6:p.Asp7447= | |
| ENST00000359218.10:c.22140T>C (TTN) | ENSP00000352154.5:p.Asp7380= | |
| ENST00000342175.10:c.22341T>C (TTN) | ENSP00000340554.6:p.Asp7447= | |
| ENST00000342992.10:c.41256T>C (TTN) | ENSP00000343764.6:p.Asp13752= | |
| ENST00000359218.9:c.22140T>C (TTN) | ENSP00000352154.5:p.Asp7380= | |
| ENST00000460472.6:c.21765T>C (TTN) | ENSP00000434586.1:p.Asp7255= | |
| ENST00000589042.5:c.48960T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp16320= | |
| ENST00000591111.5:c.44037T>C (TTN) | ENSP00000465570.1:p.Asp14679= | |
| ENST00000615779.4:c.44037T>C (TTN) | ENSP00000483597.1:p.Asp14679= | |
| NM_001256850.1:c.44037T>C (TTN) | NP_001243779.1:p.Asp14679= | |
| NM_001267550.2:c.48960T>C (TTN) MANE Select | NP_001254479.2:p.Asp16320= | |
| NM_003319.4:c.21765T>C (TTN) | NP_003310.4:p.Asp7255= | |
| NM_133378.4:c.41256T>C (TTN) | NP_596869.4:p.Asp13752= | |
| NM_133432.3:c.22140T>C (TTN) | NP_597676.3:p.Asp7380= | |
| NM_133437.4:c.22341T>C (TTN) | NP_597681.4:p.Asp7447= | |
| NR_038271.1:n.1302A>G (TTN-AS1) | ||
| XM_011511729.1:c.48057T>C (TTN) | XP_011510031.1:p.Asp16019= | |
| XM_011511730.1:c.21951T>C (TTN) | XP_011510032.1:p.Asp7317= | |
| XM_011511731.1:c.21810T>C (TTN) | XP_011510033.1:p.Asp7270= | |
| XM_017004819.1:c.47853T>C (TTN) | XP_016860308.1:p.Asp15951= | |
| XM_017004820.1:c.43251T>C (TTN) | XP_016860309.1:p.Asp14417= | |
| XM_017004821.1:c.43248T>C (TTN) | XP_016860310.1:p.Asp14416= | |
| XM_017004822.1:c.40290T>C (TTN) | XP_016860311.1:p.Asp13430= | |
| XM_017004823.1:c.21906T>C (TTN) | XP_016860312.1:p.Asp7302= | |
| XM_024453094.1:c.43401T>C (TTN) | XP_024308862.1:p.Asp14467= | |
| XM_024453095.1:c.43398T>C (TTN) | XP_024308863.1:p.Asp14466= | |
| XM_024453096.1:c.42831T>C (TTN) | XP_024308864.1:p.Asp14277= | |
| XM_024453097.1:c.40173T>C (TTN) | XP_024308865.1:p.Asp13391= | |
| XM_024453098.1:c.40092T>C (TTN) | XP_024308866.1:p.Asp13364= | |
| XM_024453099.1:c.21855T>C (TTN) | XP_024308867.1:p.Asp7285= | |
| XM_024453100.1:c.11709T>C (TTN) | XP_024308868.1:p.Asp3903= |