Linked Data
ClinVar Variation Id:
467263
dbSNP Id:
rs368425364
ExAC:
2:179469851 T / A
gnomAD v2:
2-179469851-T-A
gnomAD v3:
2-178605124-T-A
gnomAD v4:
2-178605124-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178605124T>A , CM000664.2:g.178605124T>A | GRCh38 |
| NC_000002.11:g.179469851T>A , CM000664.1:g.179469851T>A | GRCh37 |
| NC_000002.10:g.179178096T>A | NCBI36 |
| NG_011618.3:g.230679A>T , LRG_391:g.230679A>T | |
| NG_051363.1:g.87298T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46349A>T (TTN) | ENSP00000343764.6:p.Lys15450Met | |
| ENST00000342175.11:c.27434A>T (TTN) | ENSP00000340554.6:p.Lys9145Met | |
| ENST00000359218.10:c.27233A>T (TTN) | ENSP00000352154.5:p.Lys9078Met | |
| ENST00000342175.10:c.27434A>T (TTN) | ENSP00000340554.6:p.Lys9145Met | |
| ENST00000342992.10:c.46349A>T (TTN) | ENSP00000343764.6:p.Lys15450Met | |
| ENST00000359218.9:c.27233A>T (TTN) | ENSP00000352154.5:p.Lys9078Met | |
| ENST00000460472.6:c.26858A>T (TTN) | ENSP00000434586.1:p.Lys8953Met | |
| ENST00000589042.5:c.54053A>T (TTN) MANE Select | ENSP00000467141.1:p.Lys18018Met | |
| ENST00000591111.5:c.49130A>T (TTN) | ENSP00000465570.1:p.Lys16377Met | |
| ENST00000615779.4:c.49130A>T (TTN) | ENSP00000483597.1:p.Lys16377Met | |
| NM_001256850.1:c.49130A>T (TTN) | NP_001243779.1:p.Lys16377Met | |
| NM_001267550.2:c.54053A>T (TTN) MANE Select | NP_001254479.2:p.Lys18018Met | |
| NM_003319.4:c.26858A>T (TTN) | NP_003310.4:p.Lys8953Met | |
| NM_133378.4:c.46349A>T (TTN) | NP_596869.4:p.Lys15450Met | |
| NM_133432.3:c.27233A>T (TTN) | NP_597676.3:p.Lys9078Met | |
| NM_133437.4:c.27434A>T (TTN) | NP_597681.4:p.Lys9145Met | |
| NR_038271.1:n.683-3043T>A (TTN-AS1) | ||
| NR_038272.1:n.4311T>A (TTN-AS1) | ||
| XM_011511729.1:c.53150A>T (TTN) | XP_011510031.1:p.Lys17717Met | |
| XM_011511730.1:c.27044A>T (TTN) | XP_011510032.1:p.Lys9015Met | |
| XM_011511731.1:c.26903A>T (TTN) | XP_011510033.1:p.Lys8968Met | |
| XM_017004819.1:c.52946A>T (TTN) | XP_016860308.1:p.Lys17649Met | |
| XM_017004820.1:c.48344A>T (TTN) | XP_016860309.1:p.Lys16115Met | |
| XM_017004821.1:c.48341A>T (TTN) | XP_016860310.1:p.Lys16114Met | |
| XM_017004822.1:c.45383A>T (TTN) | XP_016860311.1:p.Lys15128Met | |
| XM_017004823.1:c.26999A>T (TTN) | XP_016860312.1:p.Lys9000Met | |
| XM_024453094.1:c.48494A>T (TTN) | XP_024308862.1:p.Lys16165Met | |
| XM_024453095.1:c.48491A>T (TTN) | XP_024308863.1:p.Lys16164Met | |
| XM_024453096.1:c.47924A>T (TTN) | XP_024308864.1:p.Lys15975Met | |
| XM_024453097.1:c.45266A>T (TTN) | XP_024308865.1:p.Lys15089Met | |
| XM_024453098.1:c.45185A>T (TTN) | XP_024308866.1:p.Lys15062Met | |
| XM_024453099.1:c.26948A>T (TTN) | XP_024308867.1:p.Lys8983Met | |
| XM_024453100.1:c.16802A>T (TTN) | XP_024308868.1:p.Lys5601Met |