Linked Data
ClinVar Variation Id:
437103
dbSNP Id:
rs532818379
ExAC:
2:179424719 C / T
gnomAD v2:
2-179424719-C-T
gnomAD v3:
2-178559992-C-T
gnomAD v4:
2-178559992-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559992C>T , CM000664.2:g.178559992C>T | GRCh38 |
| NC_000002.11:g.179424719C>T , CM000664.1:g.179424719C>T | GRCh37 |
| NC_000002.10:g.179132965C>T | NCBI36 |
| NG_011618.3:g.275811G>A , LRG_391:g.275811G>A | |
| NG_051363.1:g.42166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78436G>A (TTN) | ENSP00000343764.6:p.Gly26146Arg | |
| ENST00000342175.11:c.59521G>A (TTN) | ENSP00000340554.6:p.Gly19841Arg | |
| ENST00000359218.10:c.59320G>A (TTN) | ENSP00000352154.5:p.Gly19774Arg | |
| ENST00000342175.10:c.59521G>A (TTN) | ENSP00000340554.6:p.Gly19841Arg | |
| ENST00000342992.10:c.78436G>A (TTN) | ENSP00000343764.6:p.Gly26146Arg | |
| ENST00000359218.9:c.59320G>A (TTN) | ENSP00000352154.5:p.Gly19774Arg | |
| ENST00000460472.6:c.58945G>A (TTN) | ENSP00000434586.1:p.Gly19649Arg | |
| ENST00000589042.5:c.86140G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly28714Arg | |
| ENST00000591111.5:c.81217G>A (TTN) | ENSP00000465570.1:p.Gly27073Arg | |
| ENST00000615779.4:c.81217G>A (TTN) | ENSP00000483597.1:p.Gly27073Arg | |
| NM_001256850.1:c.81217G>A (TTN) | NP_001243779.1:p.Gly27073Arg | |
| NM_001267550.2:c.86140G>A (TTN) MANE Select | NP_001254479.2:p.Gly28714Arg | |
| NM_003319.4:c.58945G>A (TTN) | NP_003310.4:p.Gly19649Arg | |
| NM_133378.4:c.78436G>A (TTN) | NP_596869.4:p.Gly26146Arg | |
| NM_133432.3:c.59320G>A (TTN) | NP_597676.3:p.Gly19774Arg | |
| NM_133437.4:c.59521G>A (TTN) | NP_597681.4:p.Gly19841Arg | |
| NR_038271.1:n.447-11308C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+17631C>T (TTN-AS1) | ||
| XM_011511729.1:c.85237G>A (TTN) | XP_011510031.1:p.Gly28413Arg | |
| XM_011511730.1:c.59131G>A (TTN) | XP_011510032.1:p.Gly19711Arg | |
| XM_011511731.1:c.58990G>A (TTN) | XP_011510033.1:p.Gly19664Arg | |
| XM_017004819.1:c.85033G>A (TTN) | XP_016860308.1:p.Gly28345Arg | |
| XM_017004820.1:c.80431G>A (TTN) | XP_016860309.1:p.Gly26811Arg | |
| XM_017004821.1:c.80428G>A (TTN) | XP_016860310.1:p.Gly26810Arg | |
| XM_017004822.1:c.77470G>A (TTN) | XP_016860311.1:p.Gly25824Arg | |
| XM_017004823.1:c.59086G>A (TTN) | XP_016860312.1:p.Gly19696Arg | |
| XM_024453094.1:c.80581G>A (TTN) | XP_024308862.1:p.Gly26861Arg | |
| XM_024453095.1:c.80578G>A (TTN) | XP_024308863.1:p.Gly26860Arg | |
| XM_024453096.1:c.80011G>A (TTN) | XP_024308864.1:p.Gly26671Arg | |
| XM_024453097.1:c.77353G>A (TTN) | XP_024308865.1:p.Gly25785Arg | |
| XM_024453098.1:c.77272G>A (TTN) | XP_024308866.1:p.Gly25758Arg | |
| XM_024453099.1:c.59035G>A (TTN) | XP_024308867.1:p.Gly19679Arg | |
| XM_024453100.1:c.48889G>A (TTN) | XP_024308868.1:p.Gly16297Arg |