Linked Data
ClinVar Variation Id:
264186
dbSNP Id:
rs775743818
ExAC:
2:179439491 G / A
gnomAD v2:
2-179439491-G-A
gnomAD v3:
2-178574764-G-A
gnomAD v4:
2-178574764-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574764G>A , CM000664.2:g.178574764G>A | GRCh38 |
| NC_000002.11:g.179439491G>A , CM000664.1:g.179439491G>A | GRCh37 |
| NC_000002.10:g.179147737G>A | NCBI36 |
| NG_011618.3:g.261039C>T , LRG_391:g.261039C>T | |
| NG_051363.1:g.56938G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63664C>T (TTN) | ENSP00000343764.6:p.Arg21222Cys | |
| ENST00000342175.11:c.44749C>T (TTN) | ENSP00000340554.6:p.Arg14917Cys | |
| ENST00000359218.10:c.44548C>T (TTN) | ENSP00000352154.5:p.Arg14850Cys | |
| ENST00000342175.10:c.44749C>T (TTN) | ENSP00000340554.6:p.Arg14917Cys | |
| ENST00000342992.10:c.63664C>T (TTN) | ENSP00000343764.6:p.Arg21222Cys | |
| ENST00000359218.9:c.44548C>T (TTN) | ENSP00000352154.5:p.Arg14850Cys | |
| ENST00000460472.6:c.44173C>T (TTN) | ENSP00000434586.1:p.Arg14725Cys | |
| ENST00000589042.5:c.71368C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg23790Cys | |
| ENST00000591111.5:c.66445C>T (TTN) | ENSP00000465570.1:p.Arg22149Cys | |
| ENST00000615779.4:c.66445C>T (TTN) | ENSP00000483597.1:p.Arg22149Cys | |
| NM_001256850.1:c.66445C>T (TTN) | NP_001243779.1:p.Arg22149Cys | |
| NM_001267550.2:c.71368C>T (TTN) MANE Select | NP_001254479.2:p.Arg23790Cys | |
| NM_003319.4:c.44173C>T (TTN) | NP_003310.4:p.Arg14725Cys | |
| NM_133378.4:c.63664C>T (TTN) | NP_596869.4:p.Arg21222Cys | |
| NM_133432.3:c.44548C>T (TTN) | NP_597676.3:p.Arg14850Cys | |
| NM_133437.4:c.44749C>T (TTN) | NP_597681.4:p.Arg14917Cys | |
| NR_038271.1:n.596+3315G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-7808G>A (TTN-AS1) | ||
| XM_011511729.1:c.70465C>T (TTN) | XP_011510031.1:p.Arg23489Cys | |
| XM_011511730.1:c.44359C>T (TTN) | XP_011510032.1:p.Arg14787Cys | |
| XM_011511731.1:c.44218C>T (TTN) | XP_011510033.1:p.Arg14740Cys | |
| XM_017004819.1:c.70261C>T (TTN) | XP_016860308.1:p.Arg23421Cys | |
| XM_017004820.1:c.65659C>T (TTN) | XP_016860309.1:p.Arg21887Cys | |
| XM_017004821.1:c.65656C>T (TTN) | XP_016860310.1:p.Arg21886Cys | |
| XM_017004822.1:c.62698C>T (TTN) | XP_016860311.1:p.Arg20900Cys | |
| XM_017004823.1:c.44314C>T (TTN) | XP_016860312.1:p.Arg14772Cys | |
| XM_024453094.1:c.65809C>T (TTN) | XP_024308862.1:p.Arg21937Cys | |
| XM_024453095.1:c.65806C>T (TTN) | XP_024308863.1:p.Arg21936Cys | |
| XM_024453096.1:c.65239C>T (TTN) | XP_024308864.1:p.Arg21747Cys | |
| XM_024453097.1:c.62581C>T (TTN) | XP_024308865.1:p.Arg20861Cys | |
| XM_024453098.1:c.62500C>T (TTN) | XP_024308866.1:p.Arg20834Cys | |
| XM_024453099.1:c.44263C>T (TTN) | XP_024308867.1:p.Arg14755Cys | |
| XM_024453100.1:c.34117C>T (TTN) | XP_024308868.1:p.Arg11373Cys |