Linked Data
ClinVar Variation Id:
500653
dbSNP Id:
rs754097967
gnomAD v2:
2-179437032-T-C
gnomAD v4:
2-178572305-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572305T>C , CM000664.2:g.178572305T>C | GRCh38 |
| NC_000002.11:g.179437032T>C , CM000664.1:g.179437032T>C | GRCh37 |
| NC_000002.10:g.179145278T>C | NCBI36 |
| NG_011618.3:g.263498A>G , LRG_391:g.263498A>G | |
| NG_051363.1:g.54479T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66123A>G (TTN) | ENSP00000343764.6:p.Glu22041= | |
| ENST00000342175.11:c.47208A>G (TTN) | ENSP00000340554.6:p.Glu15736= | |
| ENST00000359218.10:c.47007A>G (TTN) | ENSP00000352154.5:p.Glu15669= | |
| ENST00000342175.10:c.47208A>G (TTN) | ENSP00000340554.6:p.Glu15736= | |
| ENST00000342992.10:c.66123A>G (TTN) | ENSP00000343764.6:p.Glu22041= | |
| ENST00000359218.9:c.47007A>G (TTN) | ENSP00000352154.5:p.Glu15669= | |
| ENST00000460472.6:c.46632A>G (TTN) | ENSP00000434586.1:p.Glu15544= | |
| ENST00000589042.5:c.73827A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu24609= | |
| ENST00000591111.5:c.68904A>G (TTN) | ENSP00000465570.1:p.Glu22968= | |
| ENST00000615779.4:c.68904A>G (TTN) | ENSP00000483597.1:p.Glu22968= | |
| NM_001256850.1:c.68904A>G (TTN) | NP_001243779.1:p.Glu22968= | |
| NM_001267550.2:c.73827A>G (TTN) MANE Select | NP_001254479.2:p.Glu24609= | |
| NM_003319.4:c.46632A>G (TTN) | NP_003310.4:p.Glu15544= | |
| NM_133378.4:c.66123A>G (TTN) | NP_596869.4:p.Glu22041= | |
| NM_133432.3:c.47007A>G (TTN) | NP_597676.3:p.Glu15669= | |
| NM_133437.4:c.47208A>G (TTN) | NP_597681.4:p.Glu15736= | |
| NR_038271.1:n.596+856T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-10267T>C (TTN-AS1) | ||
| XM_011511729.1:c.72924A>G (TTN) | XP_011510031.1:p.Glu24308= | |
| XM_011511730.1:c.46818A>G (TTN) | XP_011510032.1:p.Glu15606= | |
| XM_011511731.1:c.46677A>G (TTN) | XP_011510033.1:p.Glu15559= | |
| XM_017004819.1:c.72720A>G (TTN) | XP_016860308.1:p.Glu24240= | |
| XM_017004820.1:c.68118A>G (TTN) | XP_016860309.1:p.Glu22706= | |
| XM_017004821.1:c.68115A>G (TTN) | XP_016860310.1:p.Glu22705= | |
| XM_017004822.1:c.65157A>G (TTN) | XP_016860311.1:p.Glu21719= | |
| XM_017004823.1:c.46773A>G (TTN) | XP_016860312.1:p.Glu15591= | |
| XM_024453094.1:c.68268A>G (TTN) | XP_024308862.1:p.Glu22756= | |
| XM_024453095.1:c.68265A>G (TTN) | XP_024308863.1:p.Glu22755= | |
| XM_024453096.1:c.67698A>G (TTN) | XP_024308864.1:p.Glu22566= | |
| XM_024453097.1:c.65040A>G (TTN) | XP_024308865.1:p.Glu21680= | |
| XM_024453098.1:c.64959A>G (TTN) | XP_024308866.1:p.Glu21653= | |
| XM_024453099.1:c.46722A>G (TTN) | XP_024308867.1:p.Glu15574= | |
| XM_024453100.1:c.36576A>G (TTN) | XP_024308868.1:p.Glu12192= |