Linked Data
ClinVar Variation Id:
229569
ClinVar RCV Id:
RCV000215601
RCV000318098
RCV000278285
RCV000335727
RCV000375123
RCV000404751
RCV001722172
dbSNP Id:
rs371528685
ExAC:
2:179397429 C / T
gnomAD v2:
2-179397429-C-T
gnomAD v3:
2-178532702-C-T
gnomAD v4:
2-178532702-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532702C>T , CM000664.2:g.178532702C>T | GRCh38 |
| NC_000002.11:g.179397429C>T , CM000664.1:g.179397429C>T | GRCh37 |
| NC_000002.10:g.179105675C>T | NCBI36 |
| NG_011618.3:g.303101G>A , LRG_391:g.303101G>A | |
| NG_051363.1:g.14876C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96209G>A (TTN) | ENSP00000343764.6:p.Arg32070His | |
| ENST00000342175.11:c.77294G>A (TTN) | ENSP00000340554.6:p.Arg25765His | |
| ENST00000359218.10:c.77093G>A (TTN) | ENSP00000352154.5:p.Arg25698His | |
| ENST00000342175.10:c.77294G>A (TTN) | ENSP00000340554.6:p.Arg25765His | |
| ENST00000342992.10:c.96209G>A (TTN) | ENSP00000343764.6:p.Arg32070His | |
| ENST00000359218.9:c.77093G>A (TTN) | ENSP00000352154.5:p.Arg25698His | |
| ENST00000460472.6:c.76718G>A (TTN) | ENSP00000434586.1:p.Arg25573His | |
| ENST00000589042.5:c.103913G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg34638His | |
| ENST00000591111.5:c.98990G>A (TTN) | ENSP00000465570.1:p.Arg32997His | |
| ENST00000615779.4:c.98990G>A (TTN) | ENSP00000483597.1:p.Arg32997His | |
| NM_001256850.1:c.98990G>A (TTN) | NP_001243779.1:p.Arg32997His | |
| NM_001267550.2:c.103913G>A (TTN) MANE Select | NP_001254479.2:p.Arg34638His | |
| NM_003319.4:c.76718G>A (TTN) | NP_003310.4:p.Arg25573His | |
| NM_133378.4:c.96209G>A (TTN) | NP_596869.4:p.Arg32070His | |
| NM_133432.3:c.77093G>A (TTN) | NP_597676.3:p.Arg25698His | |
| NM_133437.4:c.77294G>A (TTN) | NP_597681.4:p.Arg25765His | |
| NR_038271.1:n.446+9066C>T (TTN-AS1) | ||
| NR_038272.1:n.220-3030C>T (TTN-AS1) | ||
| XM_011511729.1:c.103010G>A (TTN) | XP_011510031.1:p.Arg34337His | |
| XM_011511730.1:c.76904G>A (TTN) | XP_011510032.1:p.Arg25635His | |
| XM_011511731.1:c.76763G>A (TTN) | XP_011510033.1:p.Arg25588His | |
| XM_017004819.1:c.102806G>A (TTN) | XP_016860308.1:p.Arg34269His | |
| XM_017004820.1:c.98204G>A (TTN) | XP_016860309.1:p.Arg32735His | |
| XM_017004821.1:c.98201G>A (TTN) | XP_016860310.1:p.Arg32734His | |
| XM_017004822.1:c.95243G>A (TTN) | XP_016860311.1:p.Arg31748His | |
| XM_017004823.1:c.76859G>A (TTN) | XP_016860312.1:p.Arg25620His | |
| XM_024453094.1:c.98354G>A (TTN) | XP_024308862.1:p.Arg32785His | |
| XM_024453095.1:c.98351G>A (TTN) | XP_024308863.1:p.Arg32784His | |
| XM_024453096.1:c.97784G>A (TTN) | XP_024308864.1:p.Arg32595His | |
| XM_024453097.1:c.95126G>A (TTN) | XP_024308865.1:p.Arg31709His | |
| XM_024453098.1:c.95045G>A (TTN) | XP_024308866.1:p.Arg31682His | |
| XM_024453099.1:c.76808G>A (TTN) | XP_024308867.1:p.Arg25603His | |
| XM_024453100.1:c.66662G>A (TTN) | XP_024308868.1:p.Arg22221His |