Linked Data
ClinVar Variation Id:
286599
dbSNP Id:
rs373134178
ExAC:
2:179396702 C / T
gnomAD v2:
2-179396702-C-T
gnomAD v3:
2-178531975-C-T
gnomAD v4:
2-178531975-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531975C>T , CM000664.2:g.178531975C>T | GRCh38 |
| NC_000002.11:g.179396702C>T , CM000664.1:g.179396702C>T | GRCh37 |
| NC_000002.10:g.179104948C>T | NCBI36 |
| NG_011618.3:g.303828G>A , LRG_391:g.303828G>A | |
| NG_051363.1:g.14149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96936G>A (TTN) | ENSP00000343764.6:p.Glu32312= | |
| ENST00000342175.11:c.78021G>A (TTN) | ENSP00000340554.6:p.Glu26007= | |
| ENST00000359218.10:c.77820G>A (TTN) | ENSP00000352154.5:p.Glu25940= | |
| ENST00000342175.10:c.78021G>A (TTN) | ENSP00000340554.6:p.Glu26007= | |
| ENST00000342992.10:c.96936G>A (TTN) | ENSP00000343764.6:p.Glu32312= | |
| ENST00000359218.9:c.77820G>A (TTN) | ENSP00000352154.5:p.Glu25940= | |
| ENST00000460472.6:c.77445G>A (TTN) | ENSP00000434586.1:p.Glu25815= | |
| ENST00000589042.5:c.104640G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu34880= | |
| ENST00000591111.5:c.99717G>A (TTN) | ENSP00000465570.1:p.Glu33239= | |
| ENST00000615779.4:c.99717G>A (TTN) | ENSP00000483597.1:p.Glu33239= | |
| NM_001256850.1:c.99717G>A (TTN) | NP_001243779.1:p.Glu33239= | |
| NM_001267550.2:c.104640G>A (TTN) MANE Select | NP_001254479.2:p.Glu34880= | |
| NM_003319.4:c.77445G>A (TTN) | NP_003310.4:p.Glu25815= | |
| NM_133378.4:c.96936G>A (TTN) | NP_596869.4:p.Glu32312= | |
| NM_133432.3:c.77820G>A (TTN) | NP_597676.3:p.Glu25940= | |
| NM_133437.4:c.78021G>A (TTN) | NP_597681.4:p.Glu26007= | |
| NR_038271.1:n.446+8339C>T (TTN-AS1) | ||
| NR_038272.1:n.220-3757C>T (TTN-AS1) | ||
| XM_011511729.1:c.103737G>A (TTN) | XP_011510031.1:p.Glu34579= | |
| XM_011511730.1:c.77631G>A (TTN) | XP_011510032.1:p.Glu25877= | |
| XM_011511731.1:c.77490G>A (TTN) | XP_011510033.1:p.Glu25830= | |
| XM_017004819.1:c.103533G>A (TTN) | XP_016860308.1:p.Glu34511= | |
| XM_017004820.1:c.98931G>A (TTN) | XP_016860309.1:p.Glu32977= | |
| XM_017004821.1:c.98928G>A (TTN) | XP_016860310.1:p.Glu32976= | |
| XM_017004822.1:c.95970G>A (TTN) | XP_016860311.1:p.Glu31990= | |
| XM_017004823.1:c.77586G>A (TTN) | XP_016860312.1:p.Glu25862= | |
| XM_024453094.1:c.99081G>A (TTN) | XP_024308862.1:p.Glu33027= | |
| XM_024453095.1:c.99078G>A (TTN) | XP_024308863.1:p.Glu33026= | |
| XM_024453096.1:c.98511G>A (TTN) | XP_024308864.1:p.Glu32837= | |
| XM_024453097.1:c.95853G>A (TTN) | XP_024308865.1:p.Glu31951= | |
| XM_024453098.1:c.95772G>A (TTN) | XP_024308866.1:p.Glu31924= | |
| XM_024453099.1:c.77535G>A (TTN) | XP_024308867.1:p.Glu25845= | |
| XM_024453100.1:c.67389G>A (TTN) | XP_024308868.1:p.Glu22463= |