Linked Data
ClinVar Variation Id:
404856
dbSNP Id:
rs200728232
ExAC:
2:179457964 T / G
gnomAD v2:
2-179457964-T-G
gnomAD v3:
2-178593237-T-G
gnomAD v4:
2-178593237-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593237T>G , CM000664.2:g.178593237T>G | GRCh38 |
| NC_000002.11:g.179457964T>G , CM000664.1:g.179457964T>G | GRCh37 |
| NC_000002.10:g.179166210T>G | NCBI36 |
| NG_011618.3:g.242566A>C , LRG_391:g.242566A>C | |
| NG_051363.1:g.75411T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51267A>C (TTN) | ENSP00000343764.6:p.Glu17089Asp | |
| ENST00000342175.11:c.32352A>C (TTN) | ENSP00000340554.6:p.Glu10784Asp | |
| ENST00000359218.10:c.32151A>C (TTN) | ENSP00000352154.5:p.Glu10717Asp | |
| ENST00000342175.10:c.32352A>C (TTN) | ENSP00000340554.6:p.Glu10784Asp | |
| ENST00000342992.10:c.51267A>C (TTN) | ENSP00000343764.6:p.Glu17089Asp | |
| ENST00000359218.9:c.32151A>C (TTN) | ENSP00000352154.5:p.Glu10717Asp | |
| ENST00000460472.6:c.31776A>C (TTN) | ENSP00000434586.1:p.Glu10592Asp | |
| ENST00000589042.5:c.58971A>C (TTN) MANE Select | ENSP00000467141.1:p.Glu19657Asp | |
| ENST00000591111.5:c.54048A>C (TTN) | ENSP00000465570.1:p.Glu18016Asp | |
| ENST00000615779.4:c.54048A>C (TTN) | ENSP00000483597.1:p.Glu18016Asp | |
| NM_001256850.1:c.54048A>C (TTN) | NP_001243779.1:p.Glu18016Asp | |
| NM_001267550.2:c.58971A>C (TTN) MANE Select | NP_001254479.2:p.Glu19657Asp | |
| NM_003319.4:c.31776A>C (TTN) | NP_003310.4:p.Glu10592Asp | |
| NM_133378.4:c.51267A>C (TTN) | NP_596869.4:p.Glu17089Asp | |
| NM_133432.3:c.32151A>C (TTN) | NP_597676.3:p.Glu10717Asp | |
| NM_133437.4:c.32352A>C (TTN) | NP_597681.4:p.Glu10784Asp | |
| NR_038271.1:n.597-4359T>G (TTN-AS1) | ||
| NR_038272.1:n.3364+1923T>G (TTN-AS1) | ||
| XM_011511729.1:c.58068A>C (TTN) | XP_011510031.1:p.Glu19356Asp | |
| XM_011511730.1:c.31962A>C (TTN) | XP_011510032.1:p.Glu10654Asp | |
| XM_011511731.1:c.31821A>C (TTN) | XP_011510033.1:p.Glu10607Asp | |
| XM_017004819.1:c.57864A>C (TTN) | XP_016860308.1:p.Glu19288Asp | |
| XM_017004820.1:c.53262A>C (TTN) | XP_016860309.1:p.Glu17754Asp | |
| XM_017004821.1:c.53259A>C (TTN) | XP_016860310.1:p.Glu17753Asp | |
| XM_017004822.1:c.50301A>C (TTN) | XP_016860311.1:p.Glu16767Asp | |
| XM_017004823.1:c.31917A>C (TTN) | XP_016860312.1:p.Glu10639Asp | |
| XM_024453094.1:c.53412A>C (TTN) | XP_024308862.1:p.Glu17804Asp | |
| XM_024453095.1:c.53409A>C (TTN) | XP_024308863.1:p.Glu17803Asp | |
| XM_024453096.1:c.52842A>C (TTN) | XP_024308864.1:p.Glu17614Asp | |
| XM_024453097.1:c.50184A>C (TTN) | XP_024308865.1:p.Glu16728Asp | |
| XM_024453098.1:c.50103A>C (TTN) | XP_024308866.1:p.Glu16701Asp | |
| XM_024453099.1:c.31866A>C (TTN) | XP_024308867.1:p.Glu10622Asp | |
| XM_024453100.1:c.21720A>C (TTN) | XP_024308868.1:p.Glu7240Asp |