Linked Data
ClinVar Variation Id:
47459
dbSNP Id:
rs397517736
ExAC:
2:179423276 G / A
gnomAD v2:
2-179423276-G-A
gnomAD v3:
2-178558549-G-A
gnomAD v4:
2-178558549-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178558549G>A , CM000664.2:g.178558549G>A | GRCh38 |
| NC_000002.11:g.179423276G>A , CM000664.1:g.179423276G>A | GRCh37 |
| NC_000002.10:g.179131522G>A | NCBI36 |
| NG_011618.3:g.277254C>T , LRG_391:g.277254C>T | |
| NG_051363.1:g.40723G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79206C>T (TTN) | ENSP00000343764.6:p.Gly26402= | |
| ENST00000342175.11:c.60291C>T (TTN) | ENSP00000340554.6:p.Gly20097= | |
| ENST00000359218.10:c.60090C>T (TTN) | ENSP00000352154.5:p.Gly20030= | |
| ENST00000342175.10:c.60291C>T (TTN) | ENSP00000340554.6:p.Gly20097= | |
| ENST00000342992.10:c.79206C>T (TTN) | ENSP00000343764.6:p.Gly26402= | |
| ENST00000359218.9:c.60090C>T (TTN) | ENSP00000352154.5:p.Gly20030= | |
| ENST00000460472.6:c.59715C>T (TTN) | ENSP00000434586.1:p.Gly19905= | |
| ENST00000589042.5:c.86910C>T (TTN) MANE Select | ENSP00000467141.1:p.Gly28970= | |
| ENST00000591111.5:c.81987C>T (TTN) | ENSP00000465570.1:p.Gly27329= | |
| ENST00000615779.4:c.81987C>T (TTN) | ENSP00000483597.1:p.Gly27329= | |
| NM_001256850.1:c.81987C>T (TTN) | NP_001243779.1:p.Gly27329= | |
| NM_001267550.2:c.86910C>T (TTN) MANE Select | NP_001254479.2:p.Gly28970= | |
| NM_003319.4:c.59715C>T (TTN) | NP_003310.4:p.Gly19905= | |
| NM_133378.4:c.79206C>T (TTN) | NP_596869.4:p.Gly26402= | |
| NM_133432.3:c.60090C>T (TTN) | NP_597676.3:p.Gly20030= | |
| NM_133437.4:c.60291C>T (TTN) | NP_597681.4:p.Gly20097= | |
| NR_038271.1:n.447-12751G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+16188G>A (TTN-AS1) | ||
| XM_011511729.1:c.86007C>T (TTN) | XP_011510031.1:p.Gly28669= | |
| XM_011511730.1:c.59901C>T (TTN) | XP_011510032.1:p.Gly19967= | |
| XM_011511731.1:c.59760C>T (TTN) | XP_011510033.1:p.Gly19920= | |
| XM_017004819.1:c.85803C>T (TTN) | XP_016860308.1:p.Gly28601= | |
| XM_017004820.1:c.81201C>T (TTN) | XP_016860309.1:p.Gly27067= | |
| XM_017004821.1:c.81198C>T (TTN) | XP_016860310.1:p.Gly27066= | |
| XM_017004822.1:c.78240C>T (TTN) | XP_016860311.1:p.Gly26080= | |
| XM_017004823.1:c.59856C>T (TTN) | XP_016860312.1:p.Gly19952= | |
| XM_024453094.1:c.81351C>T (TTN) | XP_024308862.1:p.Gly27117= | |
| XM_024453095.1:c.81348C>T (TTN) | XP_024308863.1:p.Gly27116= | |
| XM_024453096.1:c.80781C>T (TTN) | XP_024308864.1:p.Gly26927= | |
| XM_024453097.1:c.78123C>T (TTN) | XP_024308865.1:p.Gly26041= | |
| XM_024453098.1:c.78042C>T (TTN) | XP_024308866.1:p.Gly26014= | |
| XM_024453099.1:c.59805C>T (TTN) | XP_024308867.1:p.Gly19935= | |
| XM_024453100.1:c.49659C>T (TTN) | XP_024308868.1:p.Gly16553= |