Linked Data
ClinVar Variation Id:
229552
ClinVar RCV Id:
RCV000214855
RCV000266268
RCV000374731
RCV000320208
RCV000320900
RCV000380124
RCV003150114
dbSNP Id:
rs750047570
ExAC:
2:179407164 C / T
gnomAD v2:
2-179407164-C-T
gnomAD v3:
2-178542437-C-T
gnomAD v4:
2-178542437-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542437C>T , CM000664.2:g.178542437C>T | GRCh38 |
| NC_000002.11:g.179407164C>T , CM000664.1:g.179407164C>T | GRCh37 |
| NC_000002.10:g.179115410C>T | NCBI36 |
| NG_011618.3:g.293366G>A , LRG_391:g.293366G>A | |
| NG_051363.1:g.24611C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89615G>A (TTN) | ENSP00000343764.6:p.Arg29872His | |
| ENST00000342175.11:c.70700G>A (TTN) | ENSP00000340554.6:p.Arg23567His | |
| ENST00000359218.10:c.70499G>A (TTN) | ENSP00000352154.5:p.Arg23500His | |
| ENST00000342175.10:c.70700G>A (TTN) | ENSP00000340554.6:p.Arg23567His | |
| ENST00000342992.10:c.89615G>A (TTN) | ENSP00000343764.6:p.Arg29872His | |
| ENST00000359218.9:c.70499G>A (TTN) | ENSP00000352154.5:p.Arg23500His | |
| ENST00000460472.6:c.70124G>A (TTN) | ENSP00000434586.1:p.Arg23375His | |
| ENST00000589042.5:c.97319G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg32440His | |
| ENST00000591111.5:c.92396G>A (TTN) | ENSP00000465570.1:p.Arg30799His | |
| ENST00000615779.4:c.92396G>A (TTN) | ENSP00000483597.1:p.Arg30799His | |
| NM_001256850.1:c.92396G>A (TTN) | NP_001243779.1:p.Arg30799His | |
| NM_001267550.2:c.97319G>A (TTN) MANE Select | NP_001254479.2:p.Arg32440His | |
| NM_003319.4:c.70124G>A (TTN) | NP_003310.4:p.Arg23375His | |
| NM_133378.4:c.89615G>A (TTN) | NP_596869.4:p.Arg29872His | |
| NM_133432.3:c.70499G>A (TTN) | NP_597676.3:p.Arg23500His | |
| NM_133437.4:c.70700G>A (TTN) | NP_597681.4:p.Arg23567His | |
| NR_038271.1:n.446+18801C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+76C>T (TTN-AS1) | ||
| XM_011511729.1:c.96416G>A (TTN) | XP_011510031.1:p.Arg32139His | |
| XM_011511730.1:c.70310G>A (TTN) | XP_011510032.1:p.Arg23437His | |
| XM_011511731.1:c.70169G>A (TTN) | XP_011510033.1:p.Arg23390His | |
| XM_017004819.1:c.96212G>A (TTN) | XP_016860308.1:p.Arg32071His | |
| XM_017004820.1:c.91610G>A (TTN) | XP_016860309.1:p.Arg30537His | |
| XM_017004821.1:c.91607G>A (TTN) | XP_016860310.1:p.Arg30536His | |
| XM_017004822.1:c.88649G>A (TTN) | XP_016860311.1:p.Arg29550His | |
| XM_017004823.1:c.70265G>A (TTN) | XP_016860312.1:p.Arg23422His | |
| XM_024453094.1:c.91760G>A (TTN) | XP_024308862.1:p.Arg30587His | |
| XM_024453095.1:c.91757G>A (TTN) | XP_024308863.1:p.Arg30586His | |
| XM_024453096.1:c.91190G>A (TTN) | XP_024308864.1:p.Arg30397His | |
| XM_024453097.1:c.88532G>A (TTN) | XP_024308865.1:p.Arg29511His | |
| XM_024453098.1:c.88451G>A (TTN) | XP_024308866.1:p.Arg29484His | |
| XM_024453099.1:c.70214G>A (TTN) | XP_024308867.1:p.Arg23405His | |
| XM_024453100.1:c.60068G>A (TTN) | XP_024308868.1:p.Arg20023His |