Linked Data
ClinVar Variation Id:
203028
dbSNP Id:
rs201364164
ExAC:
2:179407041 C / T
gnomAD v2:
2-179407041-C-T
gnomAD v3:
2-178542314-C-T
gnomAD v4:
2-178542314-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542314C>T , CM000664.2:g.178542314C>T | GRCh38 |
| NC_000002.11:g.179407041C>T , CM000664.1:g.179407041C>T | GRCh37 |
| NC_000002.10:g.179115287C>T | NCBI36 |
| NG_011618.3:g.293489G>A , LRG_391:g.293489G>A | |
| NG_051363.1:g.24488C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89738G>A (TTN) | ENSP00000343764.6:p.Gly29913Glu | |
| ENST00000342175.11:c.70823G>A (TTN) | ENSP00000340554.6:p.Gly23608Glu | |
| ENST00000359218.10:c.70622G>A (TTN) | ENSP00000352154.5:p.Gly23541Glu | |
| ENST00000342175.10:c.70823G>A (TTN) | ENSP00000340554.6:p.Gly23608Glu | |
| ENST00000342992.10:c.89738G>A (TTN) | ENSP00000343764.6:p.Gly29913Glu | |
| ENST00000359218.9:c.70622G>A (TTN) | ENSP00000352154.5:p.Gly23541Glu | |
| ENST00000460472.6:c.70247G>A (TTN) | ENSP00000434586.1:p.Gly23416Glu | |
| ENST00000589042.5:c.97442G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly32481Glu | |
| ENST00000591111.5:c.92519G>A (TTN) | ENSP00000465570.1:p.Gly30840Glu | |
| ENST00000615779.4:c.92519G>A (TTN) | ENSP00000483597.1:p.Gly30840Glu | |
| NM_001256850.1:c.92519G>A (TTN) | NP_001243779.1:p.Gly30840Glu | |
| NM_001267550.2:c.97442G>A (TTN) MANE Select | NP_001254479.2:p.Gly32481Glu | |
| NM_003319.4:c.70247G>A (TTN) | NP_003310.4:p.Gly23416Glu | |
| NM_133378.4:c.89738G>A (TTN) | NP_596869.4:p.Gly29913Glu | |
| NM_133432.3:c.70622G>A (TTN) | NP_597676.3:p.Gly23541Glu | |
| NM_133437.4:c.70823G>A (TTN) | NP_597681.4:p.Gly23608Glu | |
| NR_038271.1:n.446+18678C>T (TTN-AS1) | ||
| NR_038272.1:n.1996C>T (TTN-AS1) | ||
| XM_011511729.1:c.96539G>A (TTN) | XP_011510031.1:p.Gly32180Glu | |
| XM_011511730.1:c.70433G>A (TTN) | XP_011510032.1:p.Gly23478Glu | |
| XM_011511731.1:c.70292G>A (TTN) | XP_011510033.1:p.Gly23431Glu | |
| XM_017004819.1:c.96335G>A (TTN) | XP_016860308.1:p.Gly32112Glu | |
| XM_017004820.1:c.91733G>A (TTN) | XP_016860309.1:p.Gly30578Glu | |
| XM_017004821.1:c.91730G>A (TTN) | XP_016860310.1:p.Gly30577Glu | |
| XM_017004822.1:c.88772G>A (TTN) | XP_016860311.1:p.Gly29591Glu | |
| XM_017004823.1:c.70388G>A (TTN) | XP_016860312.1:p.Gly23463Glu | |
| XM_024453094.1:c.91883G>A (TTN) | XP_024308862.1:p.Gly30628Glu | |
| XM_024453095.1:c.91880G>A (TTN) | XP_024308863.1:p.Gly30627Glu | |
| XM_024453096.1:c.91313G>A (TTN) | XP_024308864.1:p.Gly30438Glu | |
| XM_024453097.1:c.88655G>A (TTN) | XP_024308865.1:p.Gly29552Glu | |
| XM_024453098.1:c.88574G>A (TTN) | XP_024308866.1:p.Gly29525Glu | |
| XM_024453099.1:c.70337G>A (TTN) | XP_024308867.1:p.Gly23446Glu | |
| XM_024453100.1:c.60191G>A (TTN) | XP_024308868.1:p.Gly20064Glu |