Linked Data
ClinVar Variation Id:
466639
ClinVar RCV Id:
RCV001378254
dbSNP Id:
rs1416873295
gnomAD v2:
2-179467318-C-A
gnomAD v3:
2-178602591-C-A
gnomAD v4:
2-178602591-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178602591C>A , CM000664.2:g.178602591C>A | GRCh38 |
| NC_000002.11:g.179467318C>A , CM000664.1:g.179467318C>A | GRCh37 |
| NC_000002.10:g.179175563C>A | NCBI36 |
| NG_011618.3:g.233212G>T , LRG_391:g.233212G>T | |
| NG_051363.1:g.84765C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47108-1G>T (TTN) | ENSP00000343764.6:n.47108-1G>T | |
| ENST00000342175.11:c.28193-1G>T (TTN) | ENSP00000340554.6:n.28193-1G>T | |
| ENST00000359218.10:c.27992-1G>T (TTN) | ENSP00000352154.5:n.27992-1G>T | |
| ENST00000342175.10:c.28193-1G>T (TTN) | ENSP00000340554.6:n.28193-1G>T | |
| ENST00000342992.10:c.47108-1G>T (TTN) | ENSP00000343764.6:n.47108-1G>T | |
| ENST00000359218.9:c.27992-1G>T (TTN) | ENSP00000352154.5:n.27992-1G>T | |
| ENST00000460472.6:c.27617-1G>T (TTN) | ENSP00000434586.1:n.27617-1G>T | |
| ENST00000589042.5:c.54812-1G>T (TTN) MANE Select | ENSP00000467141.1:n.54812-1G>T | |
| ENST00000591111.5:c.49889-1G>T (TTN) | ENSP00000465570.1:n.49889-1G>T | |
| ENST00000615779.4:c.49889-1G>T (TTN) | ENSP00000483597.1:n.49889-1G>T | |
| NM_001256850.1:c.49889-1G>T (TTN) | NP_001243779.1:n.49889-1G>T | |
| NM_001267550.2:c.54812-1G>T (TTN) MANE Select | NP_001254479.2:n.54812-1G>T | |
| NM_003319.4:c.27617-1G>T (TTN) | NP_003310.4:n.27617-1G>T | |
| NM_133378.4:c.47108-1G>T (TTN) | NP_596869.4:n.47108-1G>T | |
| NM_133432.3:c.27992-1G>T (TTN) | NP_597676.3:n.27992-1G>T | |
| NM_133437.4:c.28193-1G>T (TTN) | NP_597681.4:n.28193-1G>T | |
| NR_038271.1:n.682+4910C>A (TTN-AS1) | ||
| NR_038272.1:n.3917+1924C>A (TTN-AS1) | ||
| XM_011511729.1:c.53909-1G>T (TTN) | XP_011510031.1:n.53909-1G>T | |
| XM_011511730.1:c.27803-1G>T (TTN) | XP_011510032.1:n.27803-1G>T | |
| XM_011511731.1:c.27662-1G>T (TTN) | XP_011510033.1:n.27662-1G>T | |
| XM_017004819.1:c.53705-1G>T (TTN) | XP_016860308.1:n.53705-1G>T | |
| XM_017004820.1:c.49103-1G>T (TTN) | XP_016860309.1:n.49103-1G>T | |
| XM_017004821.1:c.49100-1G>T (TTN) | XP_016860310.1:n.49100-1G>T | |
| XM_017004822.1:c.46142-1G>T (TTN) | XP_016860311.1:n.46142-1G>T | |
| XM_017004823.1:c.27758-1G>T (TTN) | XP_016860312.1:n.27758-1G>T | |
| XM_024453094.1:c.49253-1G>T (TTN) | XP_024308862.1:n.49253-1G>T | |
| XM_024453095.1:c.49250-1G>T (TTN) | XP_024308863.1:n.49250-1G>T | |
| XM_024453096.1:c.48683-1G>T (TTN) | XP_024308864.1:n.48683-1G>T | |
| XM_024453097.1:c.46025-1G>T (TTN) | XP_024308865.1:n.46025-1G>T | |
| XM_024453098.1:c.45944-1G>T (TTN) | XP_024308866.1:n.45944-1G>T | |
| XM_024453099.1:c.27707-1G>T (TTN) | XP_024308867.1:n.27707-1G>T | |
| XM_024453100.1:c.17561-1G>T (TTN) | XP_024308868.1:n.17561-1G>T |