Linked Data
ClinVar Variation Id:
203080
dbSNP Id:
rs115150240
ExAC:
2:179396928 C / T
gnomAD v2:
2-179396928-C-T
gnomAD v3:
2-178532201-C-T
gnomAD v4:
2-178532201-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532201C>T , CM000664.2:g.178532201C>T | GRCh38 |
| NC_000002.11:g.179396928C>T , CM000664.1:g.179396928C>T | GRCh37 |
| NC_000002.10:g.179105174C>T | NCBI36 |
| NG_011618.3:g.303602G>A , LRG_391:g.303602G>A | |
| NG_051363.1:g.14375C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96710G>A (TTN) | ENSP00000343764.6:p.Arg32237Gln | |
| ENST00000342175.11:c.77795G>A (TTN) | ENSP00000340554.6:p.Arg25932Gln | |
| ENST00000359218.10:c.77594G>A (TTN) | ENSP00000352154.5:p.Arg25865Gln | |
| ENST00000342175.10:c.77795G>A (TTN) | ENSP00000340554.6:p.Arg25932Gln | |
| ENST00000342992.10:c.96710G>A (TTN) | ENSP00000343764.6:p.Arg32237Gln | |
| ENST00000359218.9:c.77594G>A (TTN) | ENSP00000352154.5:p.Arg25865Gln | |
| ENST00000460472.6:c.77219G>A (TTN) | ENSP00000434586.1:p.Arg25740Gln | |
| ENST00000589042.5:c.104414G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg34805Gln | |
| ENST00000591111.5:c.99491G>A (TTN) | ENSP00000465570.1:p.Arg33164Gln | |
| ENST00000615779.4:c.99491G>A (TTN) | ENSP00000483597.1:p.Arg33164Gln | |
| NM_001256850.1:c.99491G>A (TTN) | NP_001243779.1:p.Arg33164Gln | |
| NM_001267550.2:c.104414G>A (TTN) MANE Select | NP_001254479.2:p.Arg34805Gln | |
| NM_003319.4:c.77219G>A (TTN) | NP_003310.4:p.Arg25740Gln | |
| NM_133378.4:c.96710G>A (TTN) | NP_596869.4:p.Arg32237Gln | |
| NM_133432.3:c.77594G>A (TTN) | NP_597676.3:p.Arg25865Gln | |
| NM_133437.4:c.77795G>A (TTN) | NP_597681.4:p.Arg25932Gln | |
| NR_038271.1:n.446+8565C>T (TTN-AS1) | ||
| NR_038272.1:n.220-3531C>T (TTN-AS1) | ||
| XM_011511729.1:c.103511G>A (TTN) | XP_011510031.1:p.Arg34504Gln | |
| XM_011511730.1:c.77405G>A (TTN) | XP_011510032.1:p.Arg25802Gln | |
| XM_011511731.1:c.77264G>A (TTN) | XP_011510033.1:p.Arg25755Gln | |
| XM_017004819.1:c.103307G>A (TTN) | XP_016860308.1:p.Arg34436Gln | |
| XM_017004820.1:c.98705G>A (TTN) | XP_016860309.1:p.Arg32902Gln | |
| XM_017004821.1:c.98702G>A (TTN) | XP_016860310.1:p.Arg32901Gln | |
| XM_017004822.1:c.95744G>A (TTN) | XP_016860311.1:p.Arg31915Gln | |
| XM_017004823.1:c.77360G>A (TTN) | XP_016860312.1:p.Arg25787Gln | |
| XM_024453094.1:c.98855G>A (TTN) | XP_024308862.1:p.Arg32952Gln | |
| XM_024453095.1:c.98852G>A (TTN) | XP_024308863.1:p.Arg32951Gln | |
| XM_024453096.1:c.98285G>A (TTN) | XP_024308864.1:p.Arg32762Gln | |
| XM_024453097.1:c.95627G>A (TTN) | XP_024308865.1:p.Arg31876Gln | |
| XM_024453098.1:c.95546G>A (TTN) | XP_024308866.1:p.Arg31849Gln | |
| XM_024453099.1:c.77309G>A (TTN) | XP_024308867.1:p.Arg25770Gln | |
| XM_024453100.1:c.67163G>A (TTN) | XP_024308868.1:p.Arg22388Gln |