Linked Data
ClinVar Variation Id:
263624
dbSNP Id:
rs371034493
ExAC:
2:179437635 C / T
gnomAD v2:
2-179437635-C-T
gnomAD v3:
2-178572908-C-T
gnomAD v4:
2-178572908-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572908C>T , CM000664.2:g.178572908C>T | GRCh38 |
| NC_000002.11:g.179437635C>T , CM000664.1:g.179437635C>T | GRCh37 |
| NC_000002.10:g.179145881C>T | NCBI36 |
| NG_011618.3:g.262895G>A , LRG_391:g.262895G>A | |
| NG_051363.1:g.55082C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.65520G>A (TTN) | ENSP00000343764.6:p.Gly21840= | |
| ENST00000342175.11:c.46605G>A (TTN) | ENSP00000340554.6:p.Gly15535= | |
| ENST00000359218.10:c.46404G>A (TTN) | ENSP00000352154.5:p.Gly15468= | |
| ENST00000342175.10:c.46605G>A (TTN) | ENSP00000340554.6:p.Gly15535= | |
| ENST00000342992.10:c.65520G>A (TTN) | ENSP00000343764.6:p.Gly21840= | |
| ENST00000359218.9:c.46404G>A (TTN) | ENSP00000352154.5:p.Gly15468= | |
| ENST00000460472.6:c.46029G>A (TTN) | ENSP00000434586.1:p.Gly15343= | |
| ENST00000589042.5:c.73224G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly24408= | |
| ENST00000591111.5:c.68301G>A (TTN) | ENSP00000465570.1:p.Gly22767= | |
| ENST00000615779.4:c.68301G>A (TTN) | ENSP00000483597.1:p.Gly22767= | |
| NM_001256850.1:c.68301G>A (TTN) | NP_001243779.1:p.Gly22767= | |
| NM_001267550.2:c.73224G>A (TTN) MANE Select | NP_001254479.2:p.Gly24408= | |
| NM_003319.4:c.46029G>A (TTN) | NP_003310.4:p.Gly15343= | |
| NM_133378.4:c.65520G>A (TTN) | NP_596869.4:p.Gly21840= | |
| NM_133432.3:c.46404G>A (TTN) | NP_597676.3:p.Gly15468= | |
| NM_133437.4:c.46605G>A (TTN) | NP_597681.4:p.Gly15535= | |
| NR_038271.1:n.596+1459C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-9664C>T (TTN-AS1) | ||
| XM_011511729.1:c.72321G>A (TTN) | XP_011510031.1:p.Gly24107= | |
| XM_011511730.1:c.46215G>A (TTN) | XP_011510032.1:p.Gly15405= | |
| XM_011511731.1:c.46074G>A (TTN) | XP_011510033.1:p.Gly15358= | |
| XM_017004819.1:c.72117G>A (TTN) | XP_016860308.1:p.Gly24039= | |
| XM_017004820.1:c.67515G>A (TTN) | XP_016860309.1:p.Gly22505= | |
| XM_017004821.1:c.67512G>A (TTN) | XP_016860310.1:p.Gly22504= | |
| XM_017004822.1:c.64554G>A (TTN) | XP_016860311.1:p.Gly21518= | |
| XM_017004823.1:c.46170G>A (TTN) | XP_016860312.1:p.Gly15390= | |
| XM_024453094.1:c.67665G>A (TTN) | XP_024308862.1:p.Gly22555= | |
| XM_024453095.1:c.67662G>A (TTN) | XP_024308863.1:p.Gly22554= | |
| XM_024453096.1:c.67095G>A (TTN) | XP_024308864.1:p.Gly22365= | |
| XM_024453097.1:c.64437G>A (TTN) | XP_024308865.1:p.Gly21479= | |
| XM_024453098.1:c.64356G>A (TTN) | XP_024308866.1:p.Gly21452= | |
| XM_024453099.1:c.46119G>A (TTN) | XP_024308867.1:p.Gly15373= | |
| XM_024453100.1:c.35973G>A (TTN) | XP_024308868.1:p.Gly11991= |