Linked Data
ClinVar Variation Id:
180028
ClinVar RCV Id:
RCV000156831
RCV000282721
RCV000262898
RCV000342673
RCV000318111
RCV000371793
RCV000714084
RCV001087657
RCV001798524
RCV002326892
RCV004544460
dbSNP Id:
rs369503828
ExAC:
2:179440728 T / C
gnomAD v2:
2-179440728-T-C
gnomAD v3:
2-178576001-T-C
gnomAD v4:
2-178576001-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576001T>C , CM000664.2:g.178576001T>C | GRCh38 |
| NC_000002.11:g.179440728T>C , CM000664.1:g.179440728T>C | GRCh37 |
| NC_000002.10:g.179148974T>C | NCBI36 |
| NG_011618.3:g.259802A>G , LRG_391:g.259802A>G | |
| NG_051363.1:g.58175T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62427A>G (TTN) | ENSP00000343764.6:p.Thr20809= | |
| ENST00000342175.11:c.43512A>G (TTN) | ENSP00000340554.6:p.Thr14504= | |
| ENST00000359218.10:c.43311A>G (TTN) | ENSP00000352154.5:p.Thr14437= | |
| ENST00000342175.10:c.43512A>G (TTN) | ENSP00000340554.6:p.Thr14504= | |
| ENST00000342992.10:c.62427A>G (TTN) | ENSP00000343764.6:p.Thr20809= | |
| ENST00000359218.9:c.43311A>G (TTN) | ENSP00000352154.5:p.Thr14437= | |
| ENST00000460472.6:c.42936A>G (TTN) | ENSP00000434586.1:p.Thr14312= | |
| ENST00000589042.5:c.70131A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr23377= | |
| ENST00000591111.5:c.65208A>G (TTN) | ENSP00000465570.1:p.Thr21736= | |
| ENST00000615779.4:c.65208A>G (TTN) | ENSP00000483597.1:p.Thr21736= | |
| NM_001256850.1:c.65208A>G (TTN) | NP_001243779.1:p.Thr21736= | |
| NM_001267550.2:c.70131A>G (TTN) MANE Select | NP_001254479.2:p.Thr23377= | |
| NM_003319.4:c.42936A>G (TTN) | NP_003310.4:p.Thr14312= | |
| NM_133378.4:c.62427A>G (TTN) | NP_596869.4:p.Thr20809= | |
| NM_133432.3:c.43311A>G (TTN) | NP_597676.3:p.Thr14437= | |
| NM_133437.4:c.43512A>G (TTN) | NP_597681.4:p.Thr14504= | |
| NR_038271.1:n.596+4552T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-6571T>C (TTN-AS1) | ||
| XM_011511729.1:c.69228A>G (TTN) | XP_011510031.1:p.Thr23076= | |
| XM_011511730.1:c.43122A>G (TTN) | XP_011510032.1:p.Thr14374= | |
| XM_011511731.1:c.42981A>G (TTN) | XP_011510033.1:p.Thr14327= | |
| XM_017004819.1:c.69024A>G (TTN) | XP_016860308.1:p.Thr23008= | |
| XM_017004820.1:c.64422A>G (TTN) | XP_016860309.1:p.Thr21474= | |
| XM_017004821.1:c.64419A>G (TTN) | XP_016860310.1:p.Thr21473= | |
| XM_017004822.1:c.61461A>G (TTN) | XP_016860311.1:p.Thr20487= | |
| XM_017004823.1:c.43077A>G (TTN) | XP_016860312.1:p.Thr14359= | |
| XM_024453094.1:c.64572A>G (TTN) | XP_024308862.1:p.Thr21524= | |
| XM_024453095.1:c.64569A>G (TTN) | XP_024308863.1:p.Thr21523= | |
| XM_024453096.1:c.64002A>G (TTN) | XP_024308864.1:p.Thr21334= | |
| XM_024453097.1:c.61344A>G (TTN) | XP_024308865.1:p.Thr20448= | |
| XM_024453098.1:c.61263A>G (TTN) | XP_024308866.1:p.Thr20421= | |
| XM_024453099.1:c.43026A>G (TTN) | XP_024308867.1:p.Thr14342= | |
| XM_024453100.1:c.32880A>G (TTN) | XP_024308868.1:p.Thr10960= |