Linked Data
ClinVar Variation Id:
195717
dbSNP Id:
rs761146363
ExAC:
2:179469850 C / T
gnomAD v2:
2-179469850-C-T
gnomAD v3:
2-178605123-C-T
gnomAD v4:
2-178605123-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178605123C>T , CM000664.2:g.178605123C>T | GRCh38 |
| NC_000002.11:g.179469850C>T , CM000664.1:g.179469850C>T | GRCh37 |
| NC_000002.10:g.179178095C>T | NCBI36 |
| NG_011618.3:g.230680G>A , LRG_391:g.230680G>A | |
| NG_051363.1:g.87297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46350G>A (TTN) | ENSP00000343764.6:p.Lys15450= | |
| ENST00000342175.11:c.27435G>A (TTN) | ENSP00000340554.6:p.Lys9145= | |
| ENST00000359218.10:c.27234G>A (TTN) | ENSP00000352154.5:p.Lys9078= | |
| ENST00000342175.10:c.27435G>A (TTN) | ENSP00000340554.6:p.Lys9145= | |
| ENST00000342992.10:c.46350G>A (TTN) | ENSP00000343764.6:p.Lys15450= | |
| ENST00000359218.9:c.27234G>A (TTN) | ENSP00000352154.5:p.Lys9078= | |
| ENST00000460472.6:c.26859G>A (TTN) | ENSP00000434586.1:p.Lys8953= | |
| ENST00000589042.5:c.54054G>A (TTN) MANE Select | ENSP00000467141.1:p.Lys18018= | |
| ENST00000591111.5:c.49131G>A (TTN) | ENSP00000465570.1:p.Lys16377= | |
| ENST00000615779.4:c.49131G>A (TTN) | ENSP00000483597.1:p.Lys16377= | |
| NM_001256850.1:c.49131G>A (TTN) | NP_001243779.1:p.Lys16377= | |
| NM_001267550.2:c.54054G>A (TTN) MANE Select | NP_001254479.2:p.Lys18018= | |
| NM_003319.4:c.26859G>A (TTN) | NP_003310.4:p.Lys8953= | |
| NM_133378.4:c.46350G>A (TTN) | NP_596869.4:p.Lys15450= | |
| NM_133432.3:c.27234G>A (TTN) | NP_597676.3:p.Lys9078= | |
| NM_133437.4:c.27435G>A (TTN) | NP_597681.4:p.Lys9145= | |
| NR_038271.1:n.683-3044C>T (TTN-AS1) | ||
| NR_038272.1:n.4310C>T (TTN-AS1) | ||
| XM_011511729.1:c.53151G>A (TTN) | XP_011510031.1:p.Lys17717= | |
| XM_011511730.1:c.27045G>A (TTN) | XP_011510032.1:p.Lys9015= | |
| XM_011511731.1:c.26904G>A (TTN) | XP_011510033.1:p.Lys8968= | |
| XM_017004819.1:c.52947G>A (TTN) | XP_016860308.1:p.Lys17649= | |
| XM_017004820.1:c.48345G>A (TTN) | XP_016860309.1:p.Lys16115= | |
| XM_017004821.1:c.48342G>A (TTN) | XP_016860310.1:p.Lys16114= | |
| XM_017004822.1:c.45384G>A (TTN) | XP_016860311.1:p.Lys15128= | |
| XM_017004823.1:c.27000G>A (TTN) | XP_016860312.1:p.Lys9000= | |
| XM_024453094.1:c.48495G>A (TTN) | XP_024308862.1:p.Lys16165= | |
| XM_024453095.1:c.48492G>A (TTN) | XP_024308863.1:p.Lys16164= | |
| XM_024453096.1:c.47925G>A (TTN) | XP_024308864.1:p.Lys15975= | |
| XM_024453097.1:c.45267G>A (TTN) | XP_024308865.1:p.Lys15089= | |
| XM_024453098.1:c.45186G>A (TTN) | XP_024308866.1:p.Lys15062= | |
| XM_024453099.1:c.26949G>A (TTN) | XP_024308867.1:p.Lys8983= | |
| XM_024453100.1:c.16803G>A (TTN) | XP_024308868.1:p.Lys5601= |