Linked Data
ClinVar Variation Id:
467407
dbSNP Id:
rs755897447
ExAC:
2:179443750 C / T
gnomAD v2:
2-179443750-C-T
gnomAD v3:
2-178579023-C-T
gnomAD v4:
2-178579023-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178579023C>T , CM000664.2:g.178579023C>T | GRCh38 |
| NC_000002.11:g.179443750C>T , CM000664.1:g.179443750C>T | GRCh37 |
| NC_000002.10:g.179151996C>T | NCBI36 |
| NG_011618.3:g.256780G>A , LRG_391:g.256780G>A | |
| NG_051363.1:g.61197C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60303G>A (TTN) | ENSP00000343764.6:p.Lys20101= | |
| ENST00000342175.11:c.41388G>A (TTN) | ENSP00000340554.6:p.Lys13796= | |
| ENST00000359218.10:c.41187G>A (TTN) | ENSP00000352154.5:p.Lys13729= | |
| ENST00000342175.10:c.41388G>A (TTN) | ENSP00000340554.6:p.Lys13796= | |
| ENST00000342992.10:c.60303G>A (TTN) | ENSP00000343764.6:p.Lys20101= | |
| ENST00000359218.9:c.41187G>A (TTN) | ENSP00000352154.5:p.Lys13729= | |
| ENST00000460472.6:c.40812G>A (TTN) | ENSP00000434586.1:p.Lys13604= | |
| ENST00000589042.5:c.68007G>A (TTN) MANE Select | ENSP00000467141.1:p.Lys22669= | |
| ENST00000591111.5:c.63084G>A (TTN) | ENSP00000465570.1:p.Lys21028= | |
| ENST00000615779.4:c.63084G>A (TTN) | ENSP00000483597.1:p.Lys21028= | |
| NM_001256850.1:c.63084G>A (TTN) | NP_001243779.1:p.Lys21028= | |
| NM_001267550.2:c.68007G>A (TTN) MANE Select | NP_001254479.2:p.Lys22669= | |
| NM_003319.4:c.40812G>A (TTN) | NP_003310.4:p.Lys13604= | |
| NM_133378.4:c.60303G>A (TTN) | NP_596869.4:p.Lys20101= | |
| NM_133432.3:c.41187G>A (TTN) | NP_597676.3:p.Lys13729= | |
| NM_133437.4:c.41388G>A (TTN) | NP_597681.4:p.Lys13796= | |
| NR_038271.1:n.596+7574C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-3549C>T (TTN-AS1) | ||
| XM_011511729.1:c.67104G>A (TTN) | XP_011510031.1:p.Lys22368= | |
| XM_011511730.1:c.40998G>A (TTN) | XP_011510032.1:p.Lys13666= | |
| XM_011511731.1:c.40857G>A (TTN) | XP_011510033.1:p.Lys13619= | |
| XM_017004819.1:c.66900G>A (TTN) | XP_016860308.1:p.Lys22300= | |
| XM_017004820.1:c.62298G>A (TTN) | XP_016860309.1:p.Lys20766= | |
| XM_017004821.1:c.62295G>A (TTN) | XP_016860310.1:p.Lys20765= | |
| XM_017004822.1:c.59337G>A (TTN) | XP_016860311.1:p.Lys19779= | |
| XM_017004823.1:c.40953G>A (TTN) | XP_016860312.1:p.Lys13651= | |
| XM_024453094.1:c.62448G>A (TTN) | XP_024308862.1:p.Lys20816= | |
| XM_024453095.1:c.62445G>A (TTN) | XP_024308863.1:p.Lys20815= | |
| XM_024453096.1:c.61878G>A (TTN) | XP_024308864.1:p.Lys20626= | |
| XM_024453097.1:c.59220G>A (TTN) | XP_024308865.1:p.Lys19740= | |
| XM_024453098.1:c.59139G>A (TTN) | XP_024308866.1:p.Lys19713= | |
| XM_024453099.1:c.40902G>A (TTN) | XP_024308867.1:p.Lys13634= | |
| XM_024453100.1:c.30756G>A (TTN) | XP_024308868.1:p.Lys10252= |