Linked Data
ClinVar Variation Id:
47295
ClinVar RCV Id:
RCV000040565
RCV000727288
RCV001134966
RCV001134967
RCV001134968
RCV001134969
RCV001088879
RCV001134970
RCV002326754
RCV004541172
dbSNP Id:
rs377220635
ExAC:
2:179440026 C / T
gnomAD v2:
2-179440026-C-T
gnomAD v3:
2-178575299-C-T
gnomAD v4:
2-178575299-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575299C>T , CM000664.2:g.178575299C>T | GRCh38 |
| NC_000002.11:g.179440026C>T , CM000664.1:g.179440026C>T | GRCh37 |
| NC_000002.10:g.179148272C>T | NCBI36 |
| NG_011618.3:g.260504G>A , LRG_391:g.260504G>A | |
| NG_051363.1:g.57473C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63129G>A (TTN) | ENSP00000343764.6:p.Ala21043= | |
| ENST00000342175.11:c.44214G>A (TTN) | ENSP00000340554.6:p.Ala14738= | |
| ENST00000359218.10:c.44013G>A (TTN) | ENSP00000352154.5:p.Ala14671= | |
| ENST00000342175.10:c.44214G>A (TTN) | ENSP00000340554.6:p.Ala14738= | |
| ENST00000342992.10:c.63129G>A (TTN) | ENSP00000343764.6:p.Ala21043= | |
| ENST00000359218.9:c.44013G>A (TTN) | ENSP00000352154.5:p.Ala14671= | |
| ENST00000460472.6:c.43638G>A (TTN) | ENSP00000434586.1:p.Ala14546= | |
| ENST00000589042.5:c.70833G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala23611= | |
| ENST00000591111.5:c.65910G>A (TTN) | ENSP00000465570.1:p.Ala21970= | |
| ENST00000615779.4:c.65910G>A (TTN) | ENSP00000483597.1:p.Ala21970= | |
| NM_001256850.1:c.65910G>A (TTN) | NP_001243779.1:p.Ala21970= | |
| NM_001267550.2:c.70833G>A (TTN) MANE Select | NP_001254479.2:p.Ala23611= | |
| NM_003319.4:c.43638G>A (TTN) | NP_003310.4:p.Ala14546= | |
| NM_133378.4:c.63129G>A (TTN) | NP_596869.4:p.Ala21043= | |
| NM_133432.3:c.44013G>A (TTN) | NP_597676.3:p.Ala14671= | |
| NM_133437.4:c.44214G>A (TTN) | NP_597681.4:p.Ala14738= | |
| NR_038271.1:n.596+3850C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-7273C>T (TTN-AS1) | ||
| XM_011511729.1:c.69930G>A (TTN) | XP_011510031.1:p.Ala23310= | |
| XM_011511730.1:c.43824G>A (TTN) | XP_011510032.1:p.Ala14608= | |
| XM_011511731.1:c.43683G>A (TTN) | XP_011510033.1:p.Ala14561= | |
| XM_017004819.1:c.69726G>A (TTN) | XP_016860308.1:p.Ala23242= | |
| XM_017004820.1:c.65124G>A (TTN) | XP_016860309.1:p.Ala21708= | |
| XM_017004821.1:c.65121G>A (TTN) | XP_016860310.1:p.Ala21707= | |
| XM_017004822.1:c.62163G>A (TTN) | XP_016860311.1:p.Ala20721= | |
| XM_017004823.1:c.43779G>A (TTN) | XP_016860312.1:p.Ala14593= | |
| XM_024453094.1:c.65274G>A (TTN) | XP_024308862.1:p.Ala21758= | |
| XM_024453095.1:c.65271G>A (TTN) | XP_024308863.1:p.Ala21757= | |
| XM_024453096.1:c.64704G>A (TTN) | XP_024308864.1:p.Ala21568= | |
| XM_024453097.1:c.62046G>A (TTN) | XP_024308865.1:p.Ala20682= | |
| XM_024453098.1:c.61965G>A (TTN) | XP_024308866.1:p.Ala20655= | |
| XM_024453099.1:c.43728G>A (TTN) | XP_024308867.1:p.Ala14576= | |
| XM_024453100.1:c.33582G>A (TTN) | XP_024308868.1:p.Ala11194= |