Linked Data
ClinVar Variation Id:
96308
dbSNP Id:
rs375442124
ExAC:
2:179427126 G / A
gnomAD v2:
2-179427126-G-A
gnomAD v3:
2-178562399-G-A
gnomAD v4:
2-178562399-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562399G>A , CM000664.2:g.178562399G>A | GRCh38 |
| NC_000002.11:g.179427126G>A , CM000664.1:g.179427126G>A | GRCh37 |
| NC_000002.10:g.179135372G>A | NCBI36 |
| NG_011618.3:g.273404C>T , LRG_391:g.273404C>T | |
| NG_051363.1:g.44573G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76029C>T (TTN) | ENSP00000343764.6:p.Ser25343= | |
| ENST00000342175.11:c.57114C>T (TTN) | ENSP00000340554.6:p.Ser19038= | |
| ENST00000359218.10:c.56913C>T (TTN) | ENSP00000352154.5:p.Ser18971= | |
| ENST00000342175.10:c.57114C>T (TTN) | ENSP00000340554.6:p.Ser19038= | |
| ENST00000342992.10:c.76029C>T (TTN) | ENSP00000343764.6:p.Ser25343= | |
| ENST00000359218.9:c.56913C>T (TTN) | ENSP00000352154.5:p.Ser18971= | |
| ENST00000460472.6:c.56538C>T (TTN) | ENSP00000434586.1:p.Ser18846= | |
| ENST00000589042.5:c.83733C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser27911= | |
| ENST00000591111.5:c.78810C>T (TTN) | ENSP00000465570.1:p.Ser26270= | |
| ENST00000615779.4:c.78810C>T (TTN) | ENSP00000483597.1:p.Ser26270= | |
| NM_001256850.1:c.78810C>T (TTN) | NP_001243779.1:p.Ser26270= | |
| NM_001267550.2:c.83733C>T (TTN) MANE Select | NP_001254479.2:p.Ser27911= | |
| NM_003319.4:c.56538C>T (TTN) | NP_003310.4:p.Ser18846= | |
| NM_133378.4:c.76029C>T (TTN) | NP_596869.4:p.Ser25343= | |
| NM_133432.3:c.56913C>T (TTN) | NP_597676.3:p.Ser18971= | |
| NM_133437.4:c.57114C>T (TTN) | NP_597681.4:p.Ser19038= | |
| NR_038271.1:n.447-8901G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+20038G>A (TTN-AS1) | ||
| XM_011511729.1:c.82830C>T (TTN) | XP_011510031.1:p.Ser27610= | |
| XM_011511730.1:c.56724C>T (TTN) | XP_011510032.1:p.Ser18908= | |
| XM_011511731.1:c.56583C>T (TTN) | XP_011510033.1:p.Ser18861= | |
| XM_017004819.1:c.82626C>T (TTN) | XP_016860308.1:p.Ser27542= | |
| XM_017004820.1:c.78024C>T (TTN) | XP_016860309.1:p.Ser26008= | |
| XM_017004821.1:c.78021C>T (TTN) | XP_016860310.1:p.Ser26007= | |
| XM_017004822.1:c.75063C>T (TTN) | XP_016860311.1:p.Ser25021= | |
| XM_017004823.1:c.56679C>T (TTN) | XP_016860312.1:p.Ser18893= | |
| XM_024453094.1:c.78174C>T (TTN) | XP_024308862.1:p.Ser26058= | |
| XM_024453095.1:c.78171C>T (TTN) | XP_024308863.1:p.Ser26057= | |
| XM_024453096.1:c.77604C>T (TTN) | XP_024308864.1:p.Ser25868= | |
| XM_024453097.1:c.74946C>T (TTN) | XP_024308865.1:p.Ser24982= | |
| XM_024453098.1:c.74865C>T (TTN) | XP_024308866.1:p.Ser24955= | |
| XM_024453099.1:c.56628C>T (TTN) | XP_024308867.1:p.Ser18876= | |
| XM_024453100.1:c.46482C>T (TTN) | XP_024308868.1:p.Ser15494= |