Linked Data
ClinVar Variation Id:
467367
ClinVar RCV Id:
RCV001130771
RCV001133736
RCV000549166
RCV001133738
RCV000593395
RCV002282219
RCV001130770
RCV001133737
RCV002456151
dbSNP Id:
rs372812312
ExAC:
2:179452031 C / T
gnomAD v2:
2-179452031-C-T
gnomAD v3:
2-178587304-C-T
gnomAD v4:
2-178587304-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587304C>T , CM000664.2:g.178587304C>T | GRCh38 |
| NC_000002.11:g.179452031C>T , CM000664.1:g.179452031C>T | GRCh37 |
| NC_000002.10:g.179160277C>T | NCBI36 |
| NG_011618.3:g.248499G>A , LRG_391:g.248499G>A | |
| NG_051363.1:g.69478C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56203G>A (TTN) | ENSP00000343764.6:p.Val18735Met | |
| ENST00000342175.11:c.37288G>A (TTN) | ENSP00000340554.6:p.Val12430Met | |
| ENST00000359218.10:c.37087G>A (TTN) | ENSP00000352154.5:p.Val12363Met | |
| ENST00000342175.10:c.37288G>A (TTN) | ENSP00000340554.6:p.Val12430Met | |
| ENST00000342992.10:c.56203G>A (TTN) | ENSP00000343764.6:p.Val18735Met | |
| ENST00000359218.9:c.37087G>A (TTN) | ENSP00000352154.5:p.Val12363Met | |
| ENST00000460472.6:c.36712G>A (TTN) | ENSP00000434586.1:p.Val12238Met | |
| ENST00000589042.5:c.63907G>A (TTN) MANE Select | ENSP00000467141.1:p.Val21303Met | |
| ENST00000591111.5:c.58984G>A (TTN) | ENSP00000465570.1:p.Val19662Met | |
| ENST00000615779.4:c.58984G>A (TTN) | ENSP00000483597.1:p.Val19662Met | |
| NM_001256850.1:c.58984G>A (TTN) | NP_001243779.1:p.Val19662Met | |
| NM_001267550.2:c.63907G>A (TTN) MANE Select | NP_001254479.2:p.Val21303Met | |
| NM_003319.4:c.36712G>A (TTN) | NP_003310.4:p.Val12238Met | |
| NM_133378.4:c.56203G>A (TTN) | NP_596869.4:p.Val18735Met | |
| NM_133432.3:c.37087G>A (TTN) | NP_597676.3:p.Val12363Met | |
| NM_133437.4:c.37288G>A (TTN) | NP_597681.4:p.Val12430Met | |
| NR_038271.1:n.597-10292C>T (TTN-AS1) | ||
| NR_038272.1:n.3188+2311C>T (TTN-AS1) | ||
| XM_011511729.1:c.63004G>A (TTN) | XP_011510031.1:p.Val21002Met | |
| XM_011511730.1:c.36898G>A (TTN) | XP_011510032.1:p.Val12300Met | |
| XM_011511731.1:c.36757G>A (TTN) | XP_011510033.1:p.Val12253Met | |
| XM_017004819.1:c.62800G>A (TTN) | XP_016860308.1:p.Val20934Met | |
| XM_017004820.1:c.58198G>A (TTN) | XP_016860309.1:p.Val19400Met | |
| XM_017004821.1:c.58195G>A (TTN) | XP_016860310.1:p.Val19399Met | |
| XM_017004822.1:c.55237G>A (TTN) | XP_016860311.1:p.Val18413Met | |
| XM_017004823.1:c.36853G>A (TTN) | XP_016860312.1:p.Val12285Met | |
| XM_024453094.1:c.58348G>A (TTN) | XP_024308862.1:p.Val19450Met | |
| XM_024453095.1:c.58345G>A (TTN) | XP_024308863.1:p.Val19449Met | |
| XM_024453096.1:c.57778G>A (TTN) | XP_024308864.1:p.Val19260Met | |
| XM_024453097.1:c.55120G>A (TTN) | XP_024308865.1:p.Val18374Met | |
| XM_024453098.1:c.55039G>A (TTN) | XP_024308866.1:p.Val18347Met | |
| XM_024453099.1:c.36802G>A (TTN) | XP_024308867.1:p.Val12268Met | |
| XM_024453100.1:c.26656G>A (TTN) | XP_024308868.1:p.Val8886Met |