Linked Data
ClinVar Variation Id:
501820
dbSNP Id:
rs370292933
ExAC:
2:179442513 C / T
gnomAD v2:
2-179442513-C-T
gnomAD v3:
2-178577786-C-T
gnomAD v4:
2-178577786-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178577786C>T , CM000664.2:g.178577786C>T | GRCh38 |
| NC_000002.11:g.179442513C>T , CM000664.1:g.179442513C>T | GRCh37 |
| NC_000002.10:g.179150759C>T | NCBI36 |
| NG_011618.3:g.258017G>A , LRG_391:g.258017G>A | |
| NG_051363.1:g.59960C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60936G>A (TTN) | ENSP00000343764.6:p.Lys20312= | |
| ENST00000342175.11:c.42021G>A (TTN) | ENSP00000340554.6:p.Lys14007= | |
| ENST00000359218.10:c.41820G>A (TTN) | ENSP00000352154.5:p.Lys13940= | |
| ENST00000342175.10:c.42021G>A (TTN) | ENSP00000340554.6:p.Lys14007= | |
| ENST00000342992.10:c.60936G>A (TTN) | ENSP00000343764.6:p.Lys20312= | |
| ENST00000359218.9:c.41820G>A (TTN) | ENSP00000352154.5:p.Lys13940= | |
| ENST00000460472.6:c.41445G>A (TTN) | ENSP00000434586.1:p.Lys13815= | |
| ENST00000589042.5:c.68640G>A (TTN) MANE Select | ENSP00000467141.1:p.Lys22880= | |
| ENST00000591111.5:c.63717G>A (TTN) | ENSP00000465570.1:p.Lys21239= | |
| ENST00000615779.4:c.63717G>A (TTN) | ENSP00000483597.1:p.Lys21239= | |
| NM_001256850.1:c.63717G>A (TTN) | NP_001243779.1:p.Lys21239= | |
| NM_001267550.2:c.68640G>A (TTN) MANE Select | NP_001254479.2:p.Lys22880= | |
| NM_003319.4:c.41445G>A (TTN) | NP_003310.4:p.Lys13815= | |
| NM_133378.4:c.60936G>A (TTN) | NP_596869.4:p.Lys20312= | |
| NM_133432.3:c.41820G>A (TTN) | NP_597676.3:p.Lys13940= | |
| NM_133437.4:c.42021G>A (TTN) | NP_597681.4:p.Lys14007= | |
| NR_038271.1:n.596+6337C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-4786C>T (TTN-AS1) | ||
| XM_011511729.1:c.67737G>A (TTN) | XP_011510031.1:p.Lys22579= | |
| XM_011511730.1:c.41631G>A (TTN) | XP_011510032.1:p.Lys13877= | |
| XM_011511731.1:c.41490G>A (TTN) | XP_011510033.1:p.Lys13830= | |
| XM_017004819.1:c.67533G>A (TTN) | XP_016860308.1:p.Lys22511= | |
| XM_017004820.1:c.62931G>A (TTN) | XP_016860309.1:p.Lys20977= | |
| XM_017004821.1:c.62928G>A (TTN) | XP_016860310.1:p.Lys20976= | |
| XM_017004822.1:c.59970G>A (TTN) | XP_016860311.1:p.Lys19990= | |
| XM_017004823.1:c.41586G>A (TTN) | XP_016860312.1:p.Lys13862= | |
| XM_024453094.1:c.63081G>A (TTN) | XP_024308862.1:p.Lys21027= | |
| XM_024453095.1:c.63078G>A (TTN) | XP_024308863.1:p.Lys21026= | |
| XM_024453096.1:c.62511G>A (TTN) | XP_024308864.1:p.Lys20837= | |
| XM_024453097.1:c.59853G>A (TTN) | XP_024308865.1:p.Lys19951= | |
| XM_024453098.1:c.59772G>A (TTN) | XP_024308866.1:p.Lys19924= | |
| XM_024453099.1:c.41535G>A (TTN) | XP_024308867.1:p.Lys13845= | |
| XM_024453100.1:c.31389G>A (TTN) | XP_024308868.1:p.Lys10463= |