Linked Data
ClinVar Variation Id:
498721
dbSNP Id:
rs201463708
ExAC:
2:179408699 G / A
gnomAD v2:
2-179408699-G-A
gnomAD v3:
2-178543972-G-A
gnomAD v4:
2-178543972-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543972G>A , CM000664.2:g.178543972G>A | GRCh38 |
| NC_000002.11:g.179408699G>A , CM000664.1:g.179408699G>A | GRCh37 |
| NC_000002.10:g.179116945G>A | NCBI36 |
| NG_011618.3:g.291831C>T , LRG_391:g.291831C>T | |
| NG_051363.1:g.26146G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88468C>T (TTN) | ENSP00000343764.6:p.Arg29490Trp | |
| ENST00000342175.11:c.69553C>T (TTN) | ENSP00000340554.6:p.Arg23185Trp | |
| ENST00000359218.10:c.69352C>T (TTN) | ENSP00000352154.5:p.Arg23118Trp | |
| ENST00000342175.10:c.69553C>T (TTN) | ENSP00000340554.6:p.Arg23185Trp | |
| ENST00000342992.10:c.88468C>T (TTN) | ENSP00000343764.6:p.Arg29490Trp | |
| ENST00000359218.9:c.69352C>T (TTN) | ENSP00000352154.5:p.Arg23118Trp | |
| ENST00000460472.6:c.68977C>T (TTN) | ENSP00000434586.1:p.Arg22993Trp | |
| ENST00000589042.5:c.96172C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg32058Trp | |
| ENST00000591111.5:c.91249C>T (TTN) | ENSP00000465570.1:p.Arg30417Trp | |
| ENST00000615779.4:c.91249C>T (TTN) | ENSP00000483597.1:p.Arg30417Trp | |
| NM_001256850.1:c.91249C>T (TTN) | NP_001243779.1:p.Arg30417Trp | |
| NM_001267550.2:c.96172C>T (TTN) MANE Select | NP_001254479.2:p.Arg32058Trp | |
| NM_003319.4:c.68977C>T (TTN) | NP_003310.4:p.Arg22993Trp | |
| NM_133378.4:c.88468C>T (TTN) | NP_596869.4:p.Arg29490Trp | |
| NM_133432.3:c.69352C>T (TTN) | NP_597676.3:p.Arg23118Trp | |
| NM_133437.4:c.69553C>T (TTN) | NP_597681.4:p.Arg23185Trp | |
| NR_038271.1:n.446+20336G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+1611G>A (TTN-AS1) | ||
| XM_011511729.1:c.95269C>T (TTN) | XP_011510031.1:p.Arg31757Trp | |
| XM_011511730.1:c.69163C>T (TTN) | XP_011510032.1:p.Arg23055Trp | |
| XM_011511731.1:c.69022C>T (TTN) | XP_011510033.1:p.Arg23008Trp | |
| XM_017004819.1:c.95065C>T (TTN) | XP_016860308.1:p.Arg31689Trp | |
| XM_017004820.1:c.90463C>T (TTN) | XP_016860309.1:p.Arg30155Trp | |
| XM_017004821.1:c.90460C>T (TTN) | XP_016860310.1:p.Arg30154Trp | |
| XM_017004822.1:c.87502C>T (TTN) | XP_016860311.1:p.Arg29168Trp | |
| XM_017004823.1:c.69118C>T (TTN) | XP_016860312.1:p.Arg23040Trp | |
| XM_024453094.1:c.90613C>T (TTN) | XP_024308862.1:p.Arg30205Trp | |
| XM_024453095.1:c.90610C>T (TTN) | XP_024308863.1:p.Arg30204Trp | |
| XM_024453096.1:c.90043C>T (TTN) | XP_024308864.1:p.Arg30015Trp | |
| XM_024453097.1:c.87385C>T (TTN) | XP_024308865.1:p.Arg29129Trp | |
| XM_024453098.1:c.87304C>T (TTN) | XP_024308866.1:p.Arg29102Trp | |
| XM_024453099.1:c.69067C>T (TTN) | XP_024308867.1:p.Arg23023Trp | |
| XM_024453100.1:c.58921C>T (TTN) | XP_024308868.1:p.Arg19641Trp |