Linked Data
ClinVar Variation Id:
1004601
dbSNP Id:
rs1474079403
gnomAD v3:
2-178530104-C-T
gnomAD v4:
2-178530104-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530104C>T , CM000664.2:g.178530104C>T | GRCh38 |
| NC_000002.11:g.179394831C>T , CM000664.1:g.179394831C>T | GRCh37 |
| NC_000002.10:g.179103077C>T | NCBI36 |
| NG_011618.3:g.305699G>A , LRG_391:g.305699G>A | |
| NG_051363.1:g.12278C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98683G>A (TTN) | ENSP00000343764.6:p.Gly32895Arg | |
| ENST00000342175.11:c.79768G>A (TTN) | ENSP00000340554.6:p.Gly26590Arg | |
| ENST00000359218.10:c.79567G>A (TTN) | ENSP00000352154.5:p.Gly26523Arg | |
| ENST00000342175.10:c.79768G>A (TTN) | ENSP00000340554.6:p.Gly26590Arg | |
| ENST00000342992.10:c.98683G>A (TTN) | ENSP00000343764.6:p.Gly32895Arg | |
| ENST00000359218.9:c.79567G>A (TTN) | ENSP00000352154.5:p.Gly26523Arg | |
| ENST00000460472.6:c.79192G>A (TTN) | ENSP00000434586.1:p.Gly26398Arg | |
| ENST00000589042.5:c.106387G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly35463Arg | |
| ENST00000591111.5:c.101464G>A (TTN) | ENSP00000465570.1:p.Gly33822Arg | |
| ENST00000615779.4:c.101464G>A (TTN) | ENSP00000483597.1:p.Gly33822Arg | |
| NM_001256850.1:c.101464G>A (TTN) | NP_001243779.1:p.Gly33822Arg | |
| NM_001267550.2:c.106387G>A (TTN) MANE Select | NP_001254479.2:p.Gly35463Arg | |
| NM_003319.4:c.79192G>A (TTN) | NP_003310.4:p.Gly26398Arg | |
| NM_133378.4:c.98683G>A (TTN) | NP_596869.4:p.Gly32895Arg | |
| NM_133432.3:c.79567G>A (TTN) | NP_597676.3:p.Gly26523Arg | |
| NM_133437.4:c.79768G>A (TTN) | NP_597681.4:p.Gly26590Arg | |
| NR_038271.1:n.446+6468C>T (TTN-AS1) | ||
| NR_038272.1:n.220-5628C>T (TTN-AS1) | ||
| XM_011511729.1:c.105484G>A (TTN) | XP_011510031.1:p.Gly35162Arg | |
| XM_011511730.1:c.79378G>A (TTN) | XP_011510032.1:p.Gly26460Arg | |
| XM_011511731.1:c.79237G>A (TTN) | XP_011510033.1:p.Gly26413Arg | |
| XM_017004819.1:c.105280G>A (TTN) | XP_016860308.1:p.Gly35094Arg | |
| XM_017004820.1:c.100678G>A (TTN) | XP_016860309.1:p.Gly33560Arg | |
| XM_017004821.1:c.100675G>A (TTN) | XP_016860310.1:p.Gly33559Arg | |
| XM_017004822.1:c.97717G>A (TTN) | XP_016860311.1:p.Gly32573Arg | |
| XM_017004823.1:c.79333G>A (TTN) | XP_016860312.1:p.Gly26445Arg | |
| XM_024453094.1:c.100828G>A (TTN) | XP_024308862.1:p.Gly33610Arg | |
| XM_024453095.1:c.100825G>A (TTN) | XP_024308863.1:p.Gly33609Arg | |
| XM_024453096.1:c.100258G>A (TTN) | XP_024308864.1:p.Gly33420Arg | |
| XM_024453097.1:c.97600G>A (TTN) | XP_024308865.1:p.Gly32534Arg | |
| XM_024453098.1:c.97519G>A (TTN) | XP_024308866.1:p.Gly32507Arg | |
| XM_024453099.1:c.79282G>A (TTN) | XP_024308867.1:p.Gly26428Arg | |
| XM_024453100.1:c.69136G>A (TTN) | XP_024308868.1:p.Gly23046Arg |