Linked Data
ClinVar Variation Id:
332710
dbSNP Id:
rs758109676
ExAC:
2:179403402 G / A
gnomAD v2:
2-179403402-G-A
gnomAD v3:
2-178538675-G-A
gnomAD v4:
2-178538675-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178538675G>A , CM000664.2:g.178538675G>A | GRCh38 |
| NC_000002.11:g.179403402G>A , CM000664.1:g.179403402G>A | GRCh37 |
| NC_000002.10:g.179111648G>A | NCBI36 |
| NG_011618.3:g.297128C>T , LRG_391:g.297128C>T | |
| NG_051363.1:g.20849G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91450C>T (TTN) | ENSP00000343764.6:p.Arg30484Cys | |
| ENST00000342175.11:c.72535C>T (TTN) | ENSP00000340554.6:p.Arg24179Cys | |
| ENST00000359218.10:c.72334C>T (TTN) | ENSP00000352154.5:p.Arg24112Cys | |
| ENST00000342175.10:c.72535C>T (TTN) | ENSP00000340554.6:p.Arg24179Cys | |
| ENST00000342992.10:c.91450C>T (TTN) | ENSP00000343764.6:p.Arg30484Cys | |
| ENST00000359218.9:c.72334C>T (TTN) | ENSP00000352154.5:p.Arg24112Cys | |
| ENST00000460472.6:c.71959C>T (TTN) | ENSP00000434586.1:p.Arg23987Cys | |
| ENST00000589042.5:c.99154C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg33052Cys | |
| ENST00000591111.5:c.94231C>T (TTN) | ENSP00000465570.1:p.Arg31411Cys | |
| ENST00000615779.4:c.94231C>T (TTN) | ENSP00000483597.1:p.Arg31411Cys | |
| NM_001256850.1:c.94231C>T (TTN) | NP_001243779.1:p.Arg31411Cys | |
| NM_001267550.2:c.99154C>T (TTN) MANE Select | NP_001254479.2:p.Arg33052Cys | |
| NM_003319.4:c.71959C>T (TTN) | NP_003310.4:p.Arg23987Cys | |
| NM_133378.4:c.91450C>T (TTN) | NP_596869.4:p.Arg30484Cys | |
| NM_133432.3:c.72334C>T (TTN) | NP_597676.3:p.Arg24112Cys | |
| NM_133437.4:c.72535C>T (TTN) | NP_597681.4:p.Arg24179Cys | |
| NR_038271.1:n.446+15039G>A (TTN-AS1) | ||
| NR_038272.1:n.648-23G>A (TTN-AS1) | ||
| XM_011511729.1:c.98251C>T (TTN) | XP_011510031.1:p.Arg32751Cys | |
| XM_011511730.1:c.72145C>T (TTN) | XP_011510032.1:p.Arg24049Cys | |
| XM_011511731.1:c.72004C>T (TTN) | XP_011510033.1:p.Arg24002Cys | |
| XM_017004819.1:c.98047C>T (TTN) | XP_016860308.1:p.Arg32683Cys | |
| XM_017004820.1:c.93445C>T (TTN) | XP_016860309.1:p.Arg31149Cys | |
| XM_017004821.1:c.93442C>T (TTN) | XP_016860310.1:p.Arg31148Cys | |
| XM_017004822.1:c.90484C>T (TTN) | XP_016860311.1:p.Arg30162Cys | |
| XM_017004823.1:c.72100C>T (TTN) | XP_016860312.1:p.Arg24034Cys | |
| XM_024453094.1:c.93595C>T (TTN) | XP_024308862.1:p.Arg31199Cys | |
| XM_024453095.1:c.93592C>T (TTN) | XP_024308863.1:p.Arg31198Cys | |
| XM_024453096.1:c.93025C>T (TTN) | XP_024308864.1:p.Arg31009Cys | |
| XM_024453097.1:c.90367C>T (TTN) | XP_024308865.1:p.Arg30123Cys | |
| XM_024453098.1:c.90286C>T (TTN) | XP_024308866.1:p.Arg30096Cys | |
| XM_024453099.1:c.72049C>T (TTN) | XP_024308867.1:p.Arg24017Cys | |
| XM_024453100.1:c.61903C>T (TTN) | XP_024308868.1:p.Arg20635Cys |