Linked Data
ClinVar Variation Id:
535634
dbSNP Id:
rs370782852
ExAC:
2:179476830 G / A
gnomAD v2:
2-179476830-G-A
gnomAD v3:
2-178612103-G-A
gnomAD v4:
2-178612103-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178612103G>A , CM000664.2:g.178612103G>A | GRCh38 |
| NC_000002.11:g.179476830G>A , CM000664.1:g.179476830G>A | GRCh37 |
| NC_000002.10:g.179185075G>A | NCBI36 |
| NG_011618.3:g.223700C>T , LRG_391:g.223700C>T | |
| NG_051363.1:g.94277G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42604C>T (TTN) | ENSP00000343764.6:p.Leu14202= | |
| ENST00000342175.11:c.23689C>T (TTN) | ENSP00000340554.6:p.Leu7897= | |
| ENST00000359218.10:c.23488C>T (TTN) | ENSP00000352154.5:p.Leu7830= | |
| ENST00000342175.10:c.23689C>T (TTN) | ENSP00000340554.6:p.Leu7897= | |
| ENST00000342992.10:c.42604C>T (TTN) | ENSP00000343764.6:p.Leu14202= | |
| ENST00000359218.9:c.23488C>T (TTN) | ENSP00000352154.5:p.Leu7830= | |
| ENST00000460472.6:c.23113C>T (TTN) | ENSP00000434586.1:p.Leu7705= | |
| ENST00000589042.5:c.50308C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu16770= | |
| ENST00000591111.5:c.45385C>T (TTN) | ENSP00000465570.1:p.Leu15129= | |
| ENST00000615779.4:c.45385C>T (TTN) | ENSP00000483597.1:p.Leu15129= | |
| NM_001256850.1:c.45385C>T (TTN) | NP_001243779.1:p.Leu15129= | |
| NM_001267550.2:c.50308C>T (TTN) MANE Select | NP_001254479.2:p.Leu16770= | |
| NM_003319.4:c.23113C>T (TTN) | NP_003310.4:p.Leu7705= | |
| NM_133378.4:c.42604C>T (TTN) | NP_596869.4:p.Leu14202= | |
| NM_133432.3:c.23488C>T (TTN) | NP_597676.3:p.Leu7830= | |
| NM_133437.4:c.23689C>T (TTN) | NP_597681.4:p.Leu7897= | |
| NR_038271.1:n.783-1932G>A (TTN-AS1) | ||
| XM_011511729.1:c.49405C>T (TTN) | XP_011510031.1:p.Leu16469= | |
| XM_011511730.1:c.23299C>T (TTN) | XP_011510032.1:p.Leu7767= | |
| XM_011511731.1:c.23158C>T (TTN) | XP_011510033.1:p.Leu7720= | |
| XM_017004819.1:c.49201C>T (TTN) | XP_016860308.1:p.Leu16401= | |
| XM_017004820.1:c.44599C>T (TTN) | XP_016860309.1:p.Leu14867= | |
| XM_017004821.1:c.44596C>T (TTN) | XP_016860310.1:p.Leu14866= | |
| XM_017004822.1:c.41638C>T (TTN) | XP_016860311.1:p.Leu13880= | |
| XM_017004823.1:c.23254C>T (TTN) | XP_016860312.1:p.Leu7752= | |
| XM_024453094.1:c.44749C>T (TTN) | XP_024308862.1:p.Leu14917= | |
| XM_024453095.1:c.44746C>T (TTN) | XP_024308863.1:p.Leu14916= | |
| XM_024453096.1:c.44179C>T (TTN) | XP_024308864.1:p.Leu14727= | |
| XM_024453097.1:c.41521C>T (TTN) | XP_024308865.1:p.Leu13841= | |
| XM_024453098.1:c.41440C>T (TTN) | XP_024308866.1:p.Leu13814= | |
| XM_024453099.1:c.23203C>T (TTN) | XP_024308867.1:p.Leu7735= | |
| XM_024453100.1:c.13057C>T (TTN) | XP_024308868.1:p.Leu4353= |