Linked Data
ClinVar Variation Id:
332714
dbSNP Id:
rs569593251
ExAC:
2:179406087 G / A
gnomAD v2:
2-179406087-G-A
gnomAD v3:
2-178541360-G-A
gnomAD v4:
2-178541360-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178541360G>A , CM000664.2:g.178541360G>A | GRCh38 |
| NC_000002.11:g.179406087G>A , CM000664.1:g.179406087G>A | GRCh37 |
| NC_000002.10:g.179114333G>A | NCBI36 |
| NG_011618.3:g.294443C>T , LRG_391:g.294443C>T | |
| NG_051363.1:g.23534G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90013C>T (TTN) | ENSP00000343764.6:p.Arg30005Cys | |
| ENST00000342175.11:c.71098C>T (TTN) | ENSP00000340554.6:p.Arg23700Cys | |
| ENST00000359218.10:c.70897C>T (TTN) | ENSP00000352154.5:p.Arg23633Cys | |
| ENST00000342175.10:c.71098C>T (TTN) | ENSP00000340554.6:p.Arg23700Cys | |
| ENST00000342992.10:c.90013C>T (TTN) | ENSP00000343764.6:p.Arg30005Cys | |
| ENST00000359218.9:c.70897C>T (TTN) | ENSP00000352154.5:p.Arg23633Cys | |
| ENST00000460472.6:c.70522C>T (TTN) | ENSP00000434586.1:p.Arg23508Cys | |
| ENST00000589042.5:c.97717C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg32573Cys | |
| ENST00000591111.5:c.92794C>T (TTN) | ENSP00000465570.1:p.Arg30932Cys | |
| ENST00000615779.4:c.92794C>T (TTN) | ENSP00000483597.1:p.Arg30932Cys | |
| NM_001256850.1:c.92794C>T (TTN) | NP_001243779.1:p.Arg30932Cys | |
| NM_001267550.2:c.97717C>T (TTN) MANE Select | NP_001254479.2:p.Arg32573Cys | |
| NM_003319.4:c.70522C>T (TTN) | NP_003310.4:p.Arg23508Cys | |
| NM_133378.4:c.90013C>T (TTN) | NP_596869.4:p.Arg30005Cys | |
| NM_133432.3:c.70897C>T (TTN) | NP_597676.3:p.Arg23633Cys | |
| NM_133437.4:c.71098C>T (TTN) | NP_597681.4:p.Arg23700Cys | |
| NR_038271.1:n.446+17724G>A (TTN-AS1) | ||
| NR_038272.1:n.1904-862G>A (TTN-AS1) | ||
| XM_011511729.1:c.96814C>T (TTN) | XP_011510031.1:p.Arg32272Cys | |
| XM_011511730.1:c.70708C>T (TTN) | XP_011510032.1:p.Arg23570Cys | |
| XM_011511731.1:c.70567C>T (TTN) | XP_011510033.1:p.Arg23523Cys | |
| XM_017004819.1:c.96610C>T (TTN) | XP_016860308.1:p.Arg32204Cys | |
| XM_017004820.1:c.92008C>T (TTN) | XP_016860309.1:p.Arg30670Cys | |
| XM_017004821.1:c.92005C>T (TTN) | XP_016860310.1:p.Arg30669Cys | |
| XM_017004822.1:c.89047C>T (TTN) | XP_016860311.1:p.Arg29683Cys | |
| XM_017004823.1:c.70663C>T (TTN) | XP_016860312.1:p.Arg23555Cys | |
| XM_024453094.1:c.92158C>T (TTN) | XP_024308862.1:p.Arg30720Cys | |
| XM_024453095.1:c.92155C>T (TTN) | XP_024308863.1:p.Arg30719Cys | |
| XM_024453096.1:c.91588C>T (TTN) | XP_024308864.1:p.Arg30530Cys | |
| XM_024453097.1:c.88930C>T (TTN) | XP_024308865.1:p.Arg29644Cys | |
| XM_024453098.1:c.88849C>T (TTN) | XP_024308866.1:p.Arg29617Cys | |
| XM_024453099.1:c.70612C>T (TTN) | XP_024308867.1:p.Arg23538Cys | |
| XM_024453100.1:c.60466C>T (TTN) | XP_024308868.1:p.Arg20156Cys |