Linked Data
ClinVar Variation Id:
178159
dbSNP Id:
rs201421156
ExAC:
2:179400061 G / A
gnomAD v2:
2-179400061-G-A
gnomAD v3:
2-178535334-G-A
gnomAD v4:
2-178535334-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535334G>A , CM000664.2:g.178535334G>A | GRCh38 |
| NC_000002.11:g.179400061G>A , CM000664.1:g.179400061G>A | GRCh37 |
| NC_000002.10:g.179108307G>A | NCBI36 |
| NG_011618.3:g.300469C>T , LRG_391:g.300469C>T | |
| NG_051363.1:g.17508G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93577C>T (TTN) | ENSP00000343764.6:p.Arg31193Trp | |
| ENST00000342175.11:c.74662C>T (TTN) | ENSP00000340554.6:p.Arg24888Trp | |
| ENST00000359218.10:c.74461C>T (TTN) | ENSP00000352154.5:p.Arg24821Trp | |
| ENST00000342175.10:c.74662C>T (TTN) | ENSP00000340554.6:p.Arg24888Trp | |
| ENST00000342992.10:c.93577C>T (TTN) | ENSP00000343764.6:p.Arg31193Trp | |
| ENST00000359218.9:c.74461C>T (TTN) | ENSP00000352154.5:p.Arg24821Trp | |
| ENST00000460472.6:c.74086C>T (TTN) | ENSP00000434586.1:p.Arg24696Trp | |
| ENST00000589042.5:c.101281C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg33761Trp | |
| ENST00000591111.5:c.96358C>T (TTN) | ENSP00000465570.1:p.Arg32120Trp | |
| ENST00000615779.4:c.96358C>T (TTN) | ENSP00000483597.1:p.Arg32120Trp | |
| NM_001256850.1:c.96358C>T (TTN) | NP_001243779.1:p.Arg32120Trp | |
| NM_001267550.2:c.101281C>T (TTN) MANE Select | NP_001254479.2:p.Arg33761Trp | |
| NM_003319.4:c.74086C>T (TTN) | NP_003310.4:p.Arg24696Trp | |
| NM_133378.4:c.93577C>T (TTN) | NP_596869.4:p.Arg31193Trp | |
| NM_133432.3:c.74461C>T (TTN) | NP_597676.3:p.Arg24821Trp | |
| NM_133437.4:c.74662C>T (TTN) | NP_597681.4:p.Arg24888Trp | |
| NR_038271.1:n.446+11698G>A (TTN-AS1) | ||
| NR_038272.1:n.220-398G>A (TTN-AS1) | ||
| XM_011511729.1:c.100378C>T (TTN) | XP_011510031.1:p.Arg33460Trp | |
| XM_011511730.1:c.74272C>T (TTN) | XP_011510032.1:p.Arg24758Trp | |
| XM_011511731.1:c.74131C>T (TTN) | XP_011510033.1:p.Arg24711Trp | |
| XM_017004819.1:c.100174C>T (TTN) | XP_016860308.1:p.Arg33392Trp | |
| XM_017004820.1:c.95572C>T (TTN) | XP_016860309.1:p.Arg31858Trp | |
| XM_017004821.1:c.95569C>T (TTN) | XP_016860310.1:p.Arg31857Trp | |
| XM_017004822.1:c.92611C>T (TTN) | XP_016860311.1:p.Arg30871Trp | |
| XM_017004823.1:c.74227C>T (TTN) | XP_016860312.1:p.Arg24743Trp | |
| XM_024453094.1:c.95722C>T (TTN) | XP_024308862.1:p.Arg31908Trp | |
| XM_024453095.1:c.95719C>T (TTN) | XP_024308863.1:p.Arg31907Trp | |
| XM_024453096.1:c.95152C>T (TTN) | XP_024308864.1:p.Arg31718Trp | |
| XM_024453097.1:c.92494C>T (TTN) | XP_024308865.1:p.Arg30832Trp | |
| XM_024453098.1:c.92413C>T (TTN) | XP_024308866.1:p.Arg30805Trp | |
| XM_024453099.1:c.74176C>T (TTN) | XP_024308867.1:p.Arg24726Trp | |
| XM_024453100.1:c.64030C>T (TTN) | XP_024308868.1:p.Arg21344Trp |