Linked Data
ClinVar Variation Id:
47215
dbSNP Id:
rs201614524
ExAC:
2:179449465 G / A
gnomAD v2:
2-179449465-G-A
gnomAD v3:
2-178584738-G-A
gnomAD v4:
2-178584738-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584738G>A , CM000664.2:g.178584738G>A | GRCh38 |
| NC_000002.11:g.179449465G>A , CM000664.1:g.179449465G>A | GRCh37 |
| NC_000002.10:g.179157711G>A | NCBI36 |
| NG_011618.3:g.251065C>T , LRG_391:g.251065C>T | |
| NG_051363.1:g.66912G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.57199C>T (TTN) | ENSP00000343764.6:p.Arg19067Cys | |
| ENST00000342175.11:c.38284C>T (TTN) | ENSP00000340554.6:p.Arg12762Cys | |
| ENST00000359218.10:c.38083C>T (TTN) | ENSP00000352154.5:p.Arg12695Cys | |
| ENST00000342175.10:c.38284C>T (TTN) | ENSP00000340554.6:p.Arg12762Cys | |
| ENST00000342992.10:c.57199C>T (TTN) | ENSP00000343764.6:p.Arg19067Cys | |
| ENST00000359218.9:c.38083C>T (TTN) | ENSP00000352154.5:p.Arg12695Cys | |
| ENST00000460472.6:c.37708C>T (TTN) | ENSP00000434586.1:p.Arg12570Cys | |
| ENST00000589042.5:c.64903C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg21635Cys | |
| ENST00000591111.5:c.59980C>T (TTN) | ENSP00000465570.1:p.Arg19994Cys | |
| ENST00000615779.4:c.59980C>T (TTN) | ENSP00000483597.1:p.Arg19994Cys | |
| NM_001256850.1:c.59980C>T (TTN) | NP_001243779.1:p.Arg19994Cys | |
| NM_001267550.2:c.64903C>T (TTN) MANE Select | NP_001254479.2:p.Arg21635Cys | |
| NM_003319.4:c.37708C>T (TTN) | NP_003310.4:p.Arg12570Cys | |
| NM_133378.4:c.57199C>T (TTN) | NP_596869.4:p.Arg19067Cys | |
| NM_133432.3:c.38083C>T (TTN) | NP_597676.3:p.Arg12695Cys | |
| NM_133437.4:c.38284C>T (TTN) | NP_597681.4:p.Arg12762Cys | |
| NR_038271.1:n.597-12858G>A (TTN-AS1) | ||
| NR_038272.1:n.2933G>A (TTN-AS1) | ||
| XM_011511729.1:c.64000C>T (TTN) | XP_011510031.1:p.Arg21334Cys | |
| XM_011511730.1:c.37894C>T (TTN) | XP_011510032.1:p.Arg12632Cys | |
| XM_011511731.1:c.37753C>T (TTN) | XP_011510033.1:p.Arg12585Cys | |
| XM_017004819.1:c.63796C>T (TTN) | XP_016860308.1:p.Arg21266Cys | |
| XM_017004820.1:c.59194C>T (TTN) | XP_016860309.1:p.Arg19732Cys | |
| XM_017004821.1:c.59191C>T (TTN) | XP_016860310.1:p.Arg19731Cys | |
| XM_017004822.1:c.56233C>T (TTN) | XP_016860311.1:p.Arg18745Cys | |
| XM_017004823.1:c.37849C>T (TTN) | XP_016860312.1:p.Arg12617Cys | |
| XM_024453094.1:c.59344C>T (TTN) | XP_024308862.1:p.Arg19782Cys | |
| XM_024453095.1:c.59341C>T (TTN) | XP_024308863.1:p.Arg19781Cys | |
| XM_024453096.1:c.58774C>T (TTN) | XP_024308864.1:p.Arg19592Cys | |
| XM_024453097.1:c.56116C>T (TTN) | XP_024308865.1:p.Arg18706Cys | |
| XM_024453098.1:c.56035C>T (TTN) | XP_024308866.1:p.Arg18679Cys | |
| XM_024453099.1:c.37798C>T (TTN) | XP_024308867.1:p.Arg12600Cys | |
| XM_024453100.1:c.27652C>T (TTN) | XP_024308868.1:p.Arg9218Cys |