Linked Data
ClinVar Variation Id:
467230
dbSNP Id:
rs773394284
ExAC:
2:179475801 G / A
gnomAD v2:
2-179475801-G-A
gnomAD v3:
2-178611074-G-A
gnomAD v4:
2-178611074-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611074G>A , CM000664.2:g.178611074G>A | GRCh38 |
| NC_000002.11:g.179475801G>A , CM000664.1:g.179475801G>A | GRCh37 |
| NC_000002.10:g.179184046G>A | NCBI36 |
| NG_011618.3:g.224729C>T , LRG_391:g.224729C>T | |
| NG_051363.1:g.93248G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43351C>T (TTN) | ENSP00000343764.6:p.Arg14451Cys | |
| ENST00000342175.11:c.24436C>T (TTN) | ENSP00000340554.6:p.Arg8146Cys | |
| ENST00000359218.10:c.24235C>T (TTN) | ENSP00000352154.5:p.Arg8079Cys | |
| ENST00000342175.10:c.24436C>T (TTN) | ENSP00000340554.6:p.Arg8146Cys | |
| ENST00000342992.10:c.43351C>T (TTN) | ENSP00000343764.6:p.Arg14451Cys | |
| ENST00000359218.9:c.24235C>T (TTN) | ENSP00000352154.5:p.Arg8079Cys | |
| ENST00000460472.6:c.23860C>T (TTN) | ENSP00000434586.1:p.Arg7954Cys | |
| ENST00000589042.5:c.51055C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg17019Cys | |
| ENST00000591111.5:c.46132C>T (TTN) | ENSP00000465570.1:p.Arg15378Cys | |
| ENST00000615779.4:c.46132C>T (TTN) | ENSP00000483597.1:p.Arg15378Cys | |
| NM_001256850.1:c.46132C>T (TTN) | NP_001243779.1:p.Arg15378Cys | |
| NM_001267550.2:c.51055C>T (TTN) MANE Select | NP_001254479.2:p.Arg17019Cys | |
| NM_003319.4:c.23860C>T (TTN) | NP_003310.4:p.Arg7954Cys | |
| NM_133378.4:c.43351C>T (TTN) | NP_596869.4:p.Arg14451Cys | |
| NM_133432.3:c.24235C>T (TTN) | NP_597676.3:p.Arg8079Cys | |
| NM_133437.4:c.24436C>T (TTN) | NP_597681.4:p.Arg8146Cys | |
| NR_038271.1:n.782+2808G>A (TTN-AS1) | ||
| XM_011511729.1:c.50152C>T (TTN) | XP_011510031.1:p.Arg16718Cys | |
| XM_011511730.1:c.24046C>T (TTN) | XP_011510032.1:p.Arg8016Cys | |
| XM_011511731.1:c.23905C>T (TTN) | XP_011510033.1:p.Arg7969Cys | |
| XM_017004819.1:c.49948C>T (TTN) | XP_016860308.1:p.Arg16650Cys | |
| XM_017004820.1:c.45346C>T (TTN) | XP_016860309.1:p.Arg15116Cys | |
| XM_017004821.1:c.45343C>T (TTN) | XP_016860310.1:p.Arg15115Cys | |
| XM_017004822.1:c.42385C>T (TTN) | XP_016860311.1:p.Arg14129Cys | |
| XM_017004823.1:c.24001C>T (TTN) | XP_016860312.1:p.Arg8001Cys | |
| XM_024453094.1:c.45496C>T (TTN) | XP_024308862.1:p.Arg15166Cys | |
| XM_024453095.1:c.45493C>T (TTN) | XP_024308863.1:p.Arg15165Cys | |
| XM_024453096.1:c.44926C>T (TTN) | XP_024308864.1:p.Arg14976Cys | |
| XM_024453097.1:c.42268C>T (TTN) | XP_024308865.1:p.Arg14090Cys | |
| XM_024453098.1:c.42187C>T (TTN) | XP_024308866.1:p.Arg14063Cys | |
| XM_024453099.1:c.23950C>T (TTN) | XP_024308867.1:p.Arg7984Cys | |
| XM_024453100.1:c.13804C>T (TTN) | XP_024308868.1:p.Arg4602Cys |