Linked Data
ClinVar Variation Id:
228140
dbSNP Id:
rs371884545
ExAC:
2:179436015 C / T
gnomAD v2:
2-179436015-C-T
gnomAD v3:
2-178571288-C-T
gnomAD v4:
2-178571288-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571288C>T , CM000664.2:g.178571288C>T | GRCh38 |
| NC_000002.11:g.179436015C>T , CM000664.1:g.179436015C>T | GRCh37 |
| NC_000002.10:g.179144261C>T | NCBI36 |
| NG_011618.3:g.264515G>A , LRG_391:g.264515G>A | |
| NG_051363.1:g.53462C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67140G>A (TTN) | ENSP00000343764.6:p.Lys22380= | |
| ENST00000342175.11:c.48225G>A (TTN) | ENSP00000340554.6:p.Lys16075= | |
| ENST00000359218.10:c.48024G>A (TTN) | ENSP00000352154.5:p.Lys16008= | |
| ENST00000342175.10:c.48225G>A (TTN) | ENSP00000340554.6:p.Lys16075= | |
| ENST00000342992.10:c.67140G>A (TTN) | ENSP00000343764.6:p.Lys22380= | |
| ENST00000359218.9:c.48024G>A (TTN) | ENSP00000352154.5:p.Lys16008= | |
| ENST00000460472.6:c.47649G>A (TTN) | ENSP00000434586.1:p.Lys15883= | |
| ENST00000589042.5:c.74844G>A (TTN) MANE Select | ENSP00000467141.1:p.Lys24948= | |
| ENST00000591111.5:c.69921G>A (TTN) | ENSP00000465570.1:p.Lys23307= | |
| ENST00000615779.4:c.69921G>A (TTN) | ENSP00000483597.1:p.Lys23307= | |
| NM_001256850.1:c.69921G>A (TTN) | NP_001243779.1:p.Lys23307= | |
| NM_001267550.2:c.74844G>A (TTN) MANE Select | NP_001254479.2:p.Lys24948= | |
| NM_003319.4:c.47649G>A (TTN) | NP_003310.4:p.Lys15883= | |
| NM_133378.4:c.67140G>A (TTN) | NP_596869.4:p.Lys22380= | |
| NM_133432.3:c.48024G>A (TTN) | NP_597676.3:p.Lys16008= | |
| NM_133437.4:c.48225G>A (TTN) | NP_597681.4:p.Lys16075= | |
| NR_038271.1:n.447-12C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-11284C>T (TTN-AS1) | ||
| XM_011511729.1:c.73941G>A (TTN) | XP_011510031.1:p.Lys24647= | |
| XM_011511730.1:c.47835G>A (TTN) | XP_011510032.1:p.Lys15945= | |
| XM_011511731.1:c.47694G>A (TTN) | XP_011510033.1:p.Lys15898= | |
| XM_017004819.1:c.73737G>A (TTN) | XP_016860308.1:p.Lys24579= | |
| XM_017004820.1:c.69135G>A (TTN) | XP_016860309.1:p.Lys23045= | |
| XM_017004821.1:c.69132G>A (TTN) | XP_016860310.1:p.Lys23044= | |
| XM_017004822.1:c.66174G>A (TTN) | XP_016860311.1:p.Lys22058= | |
| XM_017004823.1:c.47790G>A (TTN) | XP_016860312.1:p.Lys15930= | |
| XM_024453094.1:c.69285G>A (TTN) | XP_024308862.1:p.Lys23095= | |
| XM_024453095.1:c.69282G>A (TTN) | XP_024308863.1:p.Lys23094= | |
| XM_024453096.1:c.68715G>A (TTN) | XP_024308864.1:p.Lys22905= | |
| XM_024453097.1:c.66057G>A (TTN) | XP_024308865.1:p.Lys22019= | |
| XM_024453098.1:c.65976G>A (TTN) | XP_024308866.1:p.Lys21992= | |
| XM_024453099.1:c.47739G>A (TTN) | XP_024308867.1:p.Lys15913= | |
| XM_024453100.1:c.37593G>A (TTN) | XP_024308868.1:p.Lys12531= |