Linked Data
ClinVar Variation Id:
202756
ClinVar RCV Id:
RCV000184684
RCV000272273
RCV000316760
RCV000373464
RCV000268605
RCV000322465
RCV001288576
RCV000550550
RCV003150068
dbSNP Id:
rs775137607
ExAC:
2:179454968 C / T
gnomAD v2:
2-179454968-C-T
gnomAD v3:
2-178590241-C-T
gnomAD v4:
2-178590241-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590241C>T , CM000664.2:g.178590241C>T | GRCh38 |
| NC_000002.11:g.179454968C>T , CM000664.1:g.179454968C>T | GRCh37 |
| NC_000002.10:g.179163214C>T | NCBI36 |
| NG_011618.3:g.245562G>A , LRG_391:g.245562G>A | |
| NG_051363.1:g.72415C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53780G>A (TTN) | ENSP00000343764.6:p.Arg17927His | |
| ENST00000342175.11:c.34865G>A (TTN) | ENSP00000340554.6:p.Arg11622His | |
| ENST00000359218.10:c.34664G>A (TTN) | ENSP00000352154.5:p.Arg11555His | |
| ENST00000342175.10:c.34865G>A (TTN) | ENSP00000340554.6:p.Arg11622His | |
| ENST00000342992.10:c.53780G>A (TTN) | ENSP00000343764.6:p.Arg17927His | |
| ENST00000359218.9:c.34664G>A (TTN) | ENSP00000352154.5:p.Arg11555His | |
| ENST00000460472.6:c.34289G>A (TTN) | ENSP00000434586.1:p.Arg11430His | |
| ENST00000589042.5:c.61484G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg20495His | |
| ENST00000591111.5:c.56561G>A (TTN) | ENSP00000465570.1:p.Arg18854His | |
| ENST00000615779.4:c.56561G>A (TTN) | ENSP00000483597.1:p.Arg18854His | |
| NM_001256850.1:c.56561G>A (TTN) | NP_001243779.1:p.Arg18854His | |
| NM_001267550.2:c.61484G>A (TTN) MANE Select | NP_001254479.2:p.Arg20495His | |
| NM_003319.4:c.34289G>A (TTN) | NP_003310.4:p.Arg11430His | |
| NM_133378.4:c.53780G>A (TTN) | NP_596869.4:p.Arg17927His | |
| NM_133432.3:c.34664G>A (TTN) | NP_597676.3:p.Arg11555His | |
| NM_133437.4:c.34865G>A (TTN) | NP_597681.4:p.Arg11622His | |
| NR_038271.1:n.597-7355C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-898C>T (TTN-AS1) | ||
| XM_011511729.1:c.60581G>A (TTN) | XP_011510031.1:p.Arg20194His | |
| XM_011511730.1:c.34475G>A (TTN) | XP_011510032.1:p.Arg11492His | |
| XM_011511731.1:c.34334G>A (TTN) | XP_011510033.1:p.Arg11445His | |
| XM_017004819.1:c.60377G>A (TTN) | XP_016860308.1:p.Arg20126His | |
| XM_017004820.1:c.55775G>A (TTN) | XP_016860309.1:p.Arg18592His | |
| XM_017004821.1:c.55772G>A (TTN) | XP_016860310.1:p.Arg18591His | |
| XM_017004822.1:c.52814G>A (TTN) | XP_016860311.1:p.Arg17605His | |
| XM_017004823.1:c.34430G>A (TTN) | XP_016860312.1:p.Arg11477His | |
| XM_024453094.1:c.55925G>A (TTN) | XP_024308862.1:p.Arg18642His | |
| XM_024453095.1:c.55922G>A (TTN) | XP_024308863.1:p.Arg18641His | |
| XM_024453096.1:c.55355G>A (TTN) | XP_024308864.1:p.Arg18452His | |
| XM_024453097.1:c.52697G>A (TTN) | XP_024308865.1:p.Arg17566His | |
| XM_024453098.1:c.52616G>A (TTN) | XP_024308866.1:p.Arg17539His | |
| XM_024453099.1:c.34379G>A (TTN) | XP_024308867.1:p.Arg11460His | |
| XM_024453100.1:c.24233G>A (TTN) | XP_024308868.1:p.Arg8078His |