Linked Data
ClinVar Variation Id:
466680
dbSNP Id:
rs748104690
ExAC:
2:179401090 C / T
gnomAD v2:
2-179401090-C-T
gnomAD v3:
2-178536363-C-T
gnomAD v4:
2-178536363-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178536363C>T , CM000664.2:g.178536363C>T | GRCh38 |
| NC_000002.11:g.179401090C>T , CM000664.1:g.179401090C>T | GRCh37 |
| NC_000002.10:g.179109336C>T | NCBI36 |
| NG_011618.3:g.299440G>A , LRG_391:g.299440G>A | |
| NG_051363.1:g.18537C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92680G>A (TTN) | ENSP00000343764.6:p.Glu30894Lys | |
| ENST00000342175.11:c.73765G>A (TTN) | ENSP00000340554.6:p.Glu24589Lys | |
| ENST00000359218.10:c.73564G>A (TTN) | ENSP00000352154.5:p.Glu24522Lys | |
| ENST00000342175.10:c.73765G>A (TTN) | ENSP00000340554.6:p.Glu24589Lys | |
| ENST00000342992.10:c.92680G>A (TTN) | ENSP00000343764.6:p.Glu30894Lys | |
| ENST00000359218.9:c.73564G>A (TTN) | ENSP00000352154.5:p.Glu24522Lys | |
| ENST00000460472.6:c.73189G>A (TTN) | ENSP00000434586.1:p.Glu24397Lys | |
| ENST00000589042.5:c.100384G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu33462Lys | |
| ENST00000591111.5:c.95461G>A (TTN) | ENSP00000465570.1:p.Glu31821Lys | |
| ENST00000615779.4:c.95461G>A (TTN) | ENSP00000483597.1:p.Glu31821Lys | |
| NM_001256850.1:c.95461G>A (TTN) | NP_001243779.1:p.Glu31821Lys | |
| NM_001267550.2:c.100384G>A (TTN) MANE Select | NP_001254479.2:p.Glu33462Lys | |
| NM_003319.4:c.73189G>A (TTN) | NP_003310.4:p.Glu24397Lys | |
| NM_133378.4:c.92680G>A (TTN) | NP_596869.4:p.Glu30894Lys | |
| NM_133432.3:c.73564G>A (TTN) | NP_597676.3:p.Glu24522Lys | |
| NM_133437.4:c.73765G>A (TTN) | NP_597681.4:p.Glu24589Lys | |
| NR_038271.1:n.446+12727C>T (TTN-AS1) | ||
| NR_038272.1:n.316+535C>T (TTN-AS1) | ||
| XM_011511729.1:c.99481G>A (TTN) | XP_011510031.1:p.Glu33161Lys | |
| XM_011511730.1:c.73375G>A (TTN) | XP_011510032.1:p.Glu24459Lys | |
| XM_011511731.1:c.73234G>A (TTN) | XP_011510033.1:p.Glu24412Lys | |
| XM_017004819.1:c.99277G>A (TTN) | XP_016860308.1:p.Glu33093Lys | |
| XM_017004820.1:c.94675G>A (TTN) | XP_016860309.1:p.Glu31559Lys | |
| XM_017004821.1:c.94672G>A (TTN) | XP_016860310.1:p.Glu31558Lys | |
| XM_017004822.1:c.91714G>A (TTN) | XP_016860311.1:p.Glu30572Lys | |
| XM_017004823.1:c.73330G>A (TTN) | XP_016860312.1:p.Glu24444Lys | |
| XM_024453094.1:c.94825G>A (TTN) | XP_024308862.1:p.Glu31609Lys | |
| XM_024453095.1:c.94822G>A (TTN) | XP_024308863.1:p.Glu31608Lys | |
| XM_024453096.1:c.94255G>A (TTN) | XP_024308864.1:p.Glu31419Lys | |
| XM_024453097.1:c.91597G>A (TTN) | XP_024308865.1:p.Glu30533Lys | |
| XM_024453098.1:c.91516G>A (TTN) | XP_024308866.1:p.Glu30506Lys | |
| XM_024453099.1:c.73279G>A (TTN) | XP_024308867.1:p.Glu24427Lys | |
| XM_024453100.1:c.63133G>A (TTN) | XP_024308868.1:p.Glu21045Lys |