Linked Data
ClinVar Variation Id:
47446
ClinVar RCV Id:
RCV000040715
RCV000769914
RCV001080928
RCV001134723
RCV001134724
RCV001134725
RCV001134726
RCV001134727
RCV002354205
RCV003883486
dbSNP Id:
rs202040332
ExAC:
2:179425453 G / C
gnomAD v2:
2-179425453-G-C
gnomAD v3:
2-178560726-G-C
gnomAD v4:
2-178560726-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560726G>C , CM000664.2:g.178560726G>C | GRCh38 |
| NC_000002.11:g.179425453G>C , CM000664.1:g.179425453G>C | GRCh37 |
| NC_000002.10:g.179133699G>C | NCBI36 |
| NG_011618.3:g.275077C>G , LRG_391:g.275077C>G | |
| NG_051363.1:g.42900G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77702C>G (TTN) | ENSP00000343764.6:p.Ser25901Cys | |
| ENST00000342175.11:c.58787C>G (TTN) | ENSP00000340554.6:p.Ser19596Cys | |
| ENST00000359218.10:c.58586C>G (TTN) | ENSP00000352154.5:p.Ser19529Cys | |
| ENST00000342175.10:c.58787C>G (TTN) | ENSP00000340554.6:p.Ser19596Cys | |
| ENST00000342992.10:c.77702C>G (TTN) | ENSP00000343764.6:p.Ser25901Cys | |
| ENST00000359218.9:c.58586C>G (TTN) | ENSP00000352154.5:p.Ser19529Cys | |
| ENST00000460472.6:c.58211C>G (TTN) | ENSP00000434586.1:p.Ser19404Cys | |
| ENST00000589042.5:c.85406C>G (TTN) MANE Select | ENSP00000467141.1:p.Ser28469Cys | |
| ENST00000591111.5:c.80483C>G (TTN) | ENSP00000465570.1:p.Ser26828Cys | |
| ENST00000615779.4:c.80483C>G (TTN) | ENSP00000483597.1:p.Ser26828Cys | |
| NM_001256850.1:c.80483C>G (TTN) | NP_001243779.1:p.Ser26828Cys | |
| NM_001267550.2:c.85406C>G (TTN) MANE Select | NP_001254479.2:p.Ser28469Cys | |
| NM_003319.4:c.58211C>G (TTN) | NP_003310.4:p.Ser19404Cys | |
| NM_133378.4:c.77702C>G (TTN) | NP_596869.4:p.Ser25901Cys | |
| NM_133432.3:c.58586C>G (TTN) | NP_597676.3:p.Ser19529Cys | |
| NM_133437.4:c.58787C>G (TTN) | NP_597681.4:p.Ser19596Cys | |
| NR_038271.1:n.447-10574G>C (TTN-AS1) | ||
| NR_038272.1:n.2043+18365G>C (TTN-AS1) | ||
| XM_011511729.1:c.84503C>G (TTN) | XP_011510031.1:p.Ser28168Cys | |
| XM_011511730.1:c.58397C>G (TTN) | XP_011510032.1:p.Ser19466Cys | |
| XM_011511731.1:c.58256C>G (TTN) | XP_011510033.1:p.Ser19419Cys | |
| XM_017004819.1:c.84299C>G (TTN) | XP_016860308.1:p.Ser28100Cys | |
| XM_017004820.1:c.79697C>G (TTN) | XP_016860309.1:p.Ser26566Cys | |
| XM_017004821.1:c.79694C>G (TTN) | XP_016860310.1:p.Ser26565Cys | |
| XM_017004822.1:c.76736C>G (TTN) | XP_016860311.1:p.Ser25579Cys | |
| XM_017004823.1:c.58352C>G (TTN) | XP_016860312.1:p.Ser19451Cys | |
| XM_024453094.1:c.79847C>G (TTN) | XP_024308862.1:p.Ser26616Cys | |
| XM_024453095.1:c.79844C>G (TTN) | XP_024308863.1:p.Ser26615Cys | |
| XM_024453096.1:c.79277C>G (TTN) | XP_024308864.1:p.Ser26426Cys | |
| XM_024453097.1:c.76619C>G (TTN) | XP_024308865.1:p.Ser25540Cys | |
| XM_024453098.1:c.76538C>G (TTN) | XP_024308866.1:p.Ser25513Cys | |
| XM_024453099.1:c.58301C>G (TTN) | XP_024308867.1:p.Ser19434Cys | |
| XM_024453100.1:c.48155C>G (TTN) | XP_024308868.1:p.Ser16052Cys |