Linked Data
ClinVar Variation Id:
290653
dbSNP Id:
rs368885714
gnomAD v2:
2-179411361-T-C
gnomAD v3:
2-178546634-T-C
gnomAD v4:
2-178546634-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546634T>C , CM000664.2:g.178546634T>C | GRCh38 |
| NC_000002.11:g.179411361T>C , CM000664.1:g.179411361T>C | GRCh37 |
| NC_000002.10:g.179119607T>C | NCBI36 |
| NG_011618.3:g.289169A>G , LRG_391:g.289169A>G | |
| NG_051363.1:g.28808T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87090A>G (TTN) | ENSP00000343764.6:p.Glu29030= | |
| ENST00000342175.11:c.68175A>G (TTN) | ENSP00000340554.6:p.Glu22725= | |
| ENST00000359218.10:c.67974A>G (TTN) | ENSP00000352154.5:p.Glu22658= | |
| ENST00000342175.10:c.68175A>G (TTN) | ENSP00000340554.6:p.Glu22725= | |
| ENST00000342992.10:c.87090A>G (TTN) | ENSP00000343764.6:p.Glu29030= | |
| ENST00000359218.9:c.67974A>G (TTN) | ENSP00000352154.5:p.Glu22658= | |
| ENST00000460472.6:c.67599A>G (TTN) | ENSP00000434586.1:p.Glu22533= | |
| ENST00000589042.5:c.94794A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu31598= | |
| ENST00000591111.5:c.89871A>G (TTN) | ENSP00000465570.1:p.Glu29957= | |
| ENST00000615779.4:c.89871A>G (TTN) | ENSP00000483597.1:p.Glu29957= | |
| NM_001256850.1:c.89871A>G (TTN) | NP_001243779.1:p.Glu29957= | |
| NM_001267550.2:c.94794A>G (TTN) MANE Select | NP_001254479.2:p.Glu31598= | |
| NM_003319.4:c.67599A>G (TTN) | NP_003310.4:p.Glu22533= | |
| NM_133378.4:c.87090A>G (TTN) | NP_596869.4:p.Glu29030= | |
| NM_133432.3:c.67974A>G (TTN) | NP_597676.3:p.Glu22658= | |
| NM_133437.4:c.68175A>G (TTN) | NP_597681.4:p.Glu22725= | |
| NR_038271.1:n.446+22998T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+4273T>C (TTN-AS1) | ||
| XM_011511729.1:c.93891A>G (TTN) | XP_011510031.1:p.Glu31297= | |
| XM_011511730.1:c.67785A>G (TTN) | XP_011510032.1:p.Glu22595= | |
| XM_011511731.1:c.67644A>G (TTN) | XP_011510033.1:p.Glu22548= | |
| XM_017004819.1:c.93687A>G (TTN) | XP_016860308.1:p.Glu31229= | |
| XM_017004820.1:c.89085A>G (TTN) | XP_016860309.1:p.Glu29695= | |
| XM_017004821.1:c.89082A>G (TTN) | XP_016860310.1:p.Glu29694= | |
| XM_017004822.1:c.86124A>G (TTN) | XP_016860311.1:p.Glu28708= | |
| XM_017004823.1:c.67740A>G (TTN) | XP_016860312.1:p.Glu22580= | |
| XM_024453094.1:c.89235A>G (TTN) | XP_024308862.1:p.Glu29745= | |
| XM_024453095.1:c.89232A>G (TTN) | XP_024308863.1:p.Glu29744= | |
| XM_024453096.1:c.88665A>G (TTN) | XP_024308864.1:p.Glu29555= | |
| XM_024453097.1:c.86007A>G (TTN) | XP_024308865.1:p.Glu28669= | |
| XM_024453098.1:c.85926A>G (TTN) | XP_024308866.1:p.Glu28642= | |
| XM_024453099.1:c.67689A>G (TTN) | XP_024308867.1:p.Glu22563= | |
| XM_024453100.1:c.57543A>G (TTN) | XP_024308868.1:p.Glu19181= |