Linked Data
ClinVar Variation Id:
137801
dbSNP Id:
rs587780981
ExAC:
2:179447132 C / T
gnomAD v2:
2-179447132-C-T
gnomAD v3:
2-178582405-C-T
gnomAD v4:
2-178582405-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178582405C>T , CM000664.2:g.178582405C>T | GRCh38 |
| NC_000002.11:g.179447132C>T , CM000664.1:g.179447132C>T | GRCh37 |
| NC_000002.10:g.179155378C>T | NCBI36 |
| NG_011618.3:g.253398G>A , LRG_391:g.253398G>A | |
| NG_051363.1:g.64579C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58347G>A (TTN) | ENSP00000343764.6:p.Val19449= | |
| ENST00000342175.11:c.39432G>A (TTN) | ENSP00000340554.6:p.Val13144= | |
| ENST00000359218.10:c.39231G>A (TTN) | ENSP00000352154.5:p.Val13077= | |
| ENST00000342175.10:c.39432G>A (TTN) | ENSP00000340554.6:p.Val13144= | |
| ENST00000342992.10:c.58347G>A (TTN) | ENSP00000343764.6:p.Val19449= | |
| ENST00000359218.9:c.39231G>A (TTN) | ENSP00000352154.5:p.Val13077= | |
| ENST00000460472.6:c.38856G>A (TTN) | ENSP00000434586.1:p.Val12952= | |
| ENST00000589042.5:c.66051G>A (TTN) MANE Select | ENSP00000467141.1:p.Val22017= | |
| ENST00000591111.5:c.61128G>A (TTN) | ENSP00000465570.1:p.Val20376= | |
| ENST00000615779.4:c.61128G>A (TTN) | ENSP00000483597.1:p.Val20376= | |
| NM_001256850.1:c.61128G>A (TTN) | NP_001243779.1:p.Val20376= | |
| NM_001267550.2:c.66051G>A (TTN) MANE Select | NP_001254479.2:p.Val22017= | |
| NM_003319.4:c.38856G>A (TTN) | NP_003310.4:p.Val12952= | |
| NM_133378.4:c.58347G>A (TTN) | NP_596869.4:p.Val19449= | |
| NM_133432.3:c.39231G>A (TTN) | NP_597676.3:p.Val13077= | |
| NM_133437.4:c.39432G>A (TTN) | NP_597681.4:p.Val13144= | |
| NR_038271.1:n.596+10956C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-167C>T (TTN-AS1) | ||
| XM_011511729.1:c.65148G>A (TTN) | XP_011510031.1:p.Val21716= | |
| XM_011511730.1:c.39042G>A (TTN) | XP_011510032.1:p.Val13014= | |
| XM_011511731.1:c.38901G>A (TTN) | XP_011510033.1:p.Val12967= | |
| XM_017004819.1:c.64944G>A (TTN) | XP_016860308.1:p.Val21648= | |
| XM_017004820.1:c.60342G>A (TTN) | XP_016860309.1:p.Val20114= | |
| XM_017004821.1:c.60339G>A (TTN) | XP_016860310.1:p.Val20113= | |
| XM_017004822.1:c.57381G>A (TTN) | XP_016860311.1:p.Val19127= | |
| XM_017004823.1:c.38997G>A (TTN) | XP_016860312.1:p.Val12999= | |
| XM_024453094.1:c.60492G>A (TTN) | XP_024308862.1:p.Val20164= | |
| XM_024453095.1:c.60489G>A (TTN) | XP_024308863.1:p.Val20163= | |
| XM_024453096.1:c.59922G>A (TTN) | XP_024308864.1:p.Val19974= | |
| XM_024453097.1:c.57264G>A (TTN) | XP_024308865.1:p.Val19088= | |
| XM_024453098.1:c.57183G>A (TTN) | XP_024308866.1:p.Val19061= | |
| XM_024453099.1:c.38946G>A (TTN) | XP_024308867.1:p.Val12982= | |
| XM_024453100.1:c.28800G>A (TTN) | XP_024308868.1:p.Val9600= |