Linked Data
ClinVar Variation Id:
1205916
ClinVar RCV Id:
RCV001572805
dbSNP Id:
rs910283551
gnomAD v2:
2-179422531-C-T
gnomAD v3:
2-178557804-C-T
gnomAD v4:
2-178557804-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557804C>T , CM000664.2:g.178557804C>T | GRCh38 |
| NC_000002.11:g.179422531C>T , CM000664.1:g.179422531C>T | GRCh37 |
| NC_000002.10:g.179130777C>T | NCBI36 |
| NG_011618.3:g.277999G>A , LRG_391:g.277999G>A | |
| NG_051363.1:g.39978C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.79846G>A (TTN) | ENSP00000343764.6:p.Val26616Met | |
| ENST00000342175.11:c.60931G>A (TTN) | ENSP00000340554.6:p.Val20311Met | |
| ENST00000359218.10:c.60730G>A (TTN) | ENSP00000352154.5:p.Val20244Met | |
| ENST00000342175.10:c.60931G>A (TTN) | ENSP00000340554.6:p.Val20311Met | |
| ENST00000342992.10:c.79846G>A (TTN) | ENSP00000343764.6:p.Val26616Met | |
| ENST00000359218.9:c.60730G>A (TTN) | ENSP00000352154.5:p.Val20244Met | |
| ENST00000460472.6:c.60355G>A (TTN) | ENSP00000434586.1:p.Val20119Met | |
| ENST00000589042.5:c.87550G>A (TTN) MANE Select | ENSP00000467141.1:p.Val29184Met | |
| ENST00000591111.5:c.82627G>A (TTN) | ENSP00000465570.1:p.Val27543Met | |
| ENST00000615779.4:c.82627G>A (TTN) | ENSP00000483597.1:p.Val27543Met | |
| NM_001256850.1:c.82627G>A (TTN) | NP_001243779.1:p.Val27543Met | |
| NM_001267550.2:c.87550G>A (TTN) MANE Select | NP_001254479.2:p.Val29184Met | |
| NM_003319.4:c.60355G>A (TTN) | NP_003310.4:p.Val20119Met | |
| NM_133378.4:c.79846G>A (TTN) | NP_596869.4:p.Val26616Met | |
| NM_133432.3:c.60730G>A (TTN) | NP_597676.3:p.Val20244Met | |
| NM_133437.4:c.60931G>A (TTN) | NP_597681.4:p.Val20311Met | |
| NR_038271.1:n.447-13496C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+15443C>T (TTN-AS1) | ||
| XM_011511729.1:c.86647G>A (TTN) | XP_011510031.1:p.Val28883Met | |
| XM_011511730.1:c.60541G>A (TTN) | XP_011510032.1:p.Val20181Met | |
| XM_011511731.1:c.60400G>A (TTN) | XP_011510033.1:p.Val20134Met | |
| XM_017004819.1:c.86443G>A (TTN) | XP_016860308.1:p.Val28815Met | |
| XM_017004820.1:c.81841G>A (TTN) | XP_016860309.1:p.Val27281Met | |
| XM_017004821.1:c.81838G>A (TTN) | XP_016860310.1:p.Val27280Met | |
| XM_017004822.1:c.78880G>A (TTN) | XP_016860311.1:p.Val26294Met | |
| XM_017004823.1:c.60496G>A (TTN) | XP_016860312.1:p.Val20166Met | |
| XM_024453094.1:c.81991G>A (TTN) | XP_024308862.1:p.Val27331Met | |
| XM_024453095.1:c.81988G>A (TTN) | XP_024308863.1:p.Val27330Met | |
| XM_024453096.1:c.81421G>A (TTN) | XP_024308864.1:p.Val27141Met | |
| XM_024453097.1:c.78763G>A (TTN) | XP_024308865.1:p.Val26255Met | |
| XM_024453098.1:c.78682G>A (TTN) | XP_024308866.1:p.Val26228Met | |
| XM_024453099.1:c.60445G>A (TTN) | XP_024308867.1:p.Val20149Met | |
| XM_024453100.1:c.50299G>A (TTN) | XP_024308868.1:p.Val16767Met |