Linked Data
ClinVar Variation Id:
202736
ClinVar RCV Id:
RCV000184656
dbSNP Id:
rs374118468
ExAC:
2:179458557 A / C
gnomAD v2:
2-179458557-A-C
gnomAD v4:
2-178593830-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593830A>C , CM000664.2:g.178593830A>C | GRCh38 |
| NC_000002.11:g.179458557A>C , CM000664.1:g.179458557A>C | GRCh37 |
| NC_000002.10:g.179166803A>C | NCBI36 |
| NG_011618.3:g.241973T>G , LRG_391:g.241973T>G | |
| NG_051363.1:g.76004A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50766T>G (TTN) | ENSP00000343764.6:p.Asp16922Glu | |
| ENST00000342175.11:c.31851T>G (TTN) | ENSP00000340554.6:p.Asp10617Glu | |
| ENST00000359218.10:c.31650T>G (TTN) | ENSP00000352154.5:p.Asp10550Glu | |
| ENST00000342175.10:c.31851T>G (TTN) | ENSP00000340554.6:p.Asp10617Glu | |
| ENST00000342992.10:c.50766T>G (TTN) | ENSP00000343764.6:p.Asp16922Glu | |
| ENST00000359218.9:c.31650T>G (TTN) | ENSP00000352154.5:p.Asp10550Glu | |
| ENST00000460472.6:c.31275T>G (TTN) | ENSP00000434586.1:p.Asp10425Glu | |
| ENST00000589042.5:c.58470T>G (TTN) MANE Select | ENSP00000467141.1:p.Asp19490Glu | |
| ENST00000591111.5:c.53547T>G (TTN) | ENSP00000465570.1:p.Asp17849Glu | |
| ENST00000615779.4:c.53547T>G (TTN) | ENSP00000483597.1:p.Asp17849Glu | |
| NM_001256850.1:c.53547T>G (TTN) | NP_001243779.1:p.Asp17849Glu | |
| NM_001267550.2:c.58470T>G (TTN) MANE Select | NP_001254479.2:p.Asp19490Glu | |
| NM_003319.4:c.31275T>G (TTN) | NP_003310.4:p.Asp10425Glu | |
| NM_133378.4:c.50766T>G (TTN) | NP_596869.4:p.Asp16922Glu | |
| NM_133432.3:c.31650T>G (TTN) | NP_597676.3:p.Asp10550Glu | |
| NM_133437.4:c.31851T>G (TTN) | NP_597681.4:p.Asp10617Glu | |
| NR_038271.1:n.597-3766A>C (TTN-AS1) | ||
| NR_038272.1:n.3364+2516A>C (TTN-AS1) | ||
| XM_011511729.1:c.57567T>G (TTN) | XP_011510031.1:p.Asp19189Glu | |
| XM_011511730.1:c.31461T>G (TTN) | XP_011510032.1:p.Asp10487Glu | |
| XM_011511731.1:c.31320T>G (TTN) | XP_011510033.1:p.Asp10440Glu | |
| XM_017004819.1:c.57363T>G (TTN) | XP_016860308.1:p.Asp19121Glu | |
| XM_017004820.1:c.52761T>G (TTN) | XP_016860309.1:p.Asp17587Glu | |
| XM_017004821.1:c.52758T>G (TTN) | XP_016860310.1:p.Asp17586Glu | |
| XM_017004822.1:c.49800T>G (TTN) | XP_016860311.1:p.Asp16600Glu | |
| XM_017004823.1:c.31416T>G (TTN) | XP_016860312.1:p.Asp10472Glu | |
| XM_024453094.1:c.52911T>G (TTN) | XP_024308862.1:p.Asp17637Glu | |
| XM_024453095.1:c.52908T>G (TTN) | XP_024308863.1:p.Asp17636Glu | |
| XM_024453096.1:c.52341T>G (TTN) | XP_024308864.1:p.Asp17447Glu | |
| XM_024453097.1:c.49683T>G (TTN) | XP_024308865.1:p.Asp16561Glu | |
| XM_024453098.1:c.49602T>G (TTN) | XP_024308866.1:p.Asp16534Glu | |
| XM_024453099.1:c.31365T>G (TTN) | XP_024308867.1:p.Asp10455Glu | |
| XM_024453100.1:c.21219T>G (TTN) | XP_024308868.1:p.Asp7073Glu |