Linked Data
ClinVar Variation Id:
165969
dbSNP Id:
rs200550947
ExAC:
2:179466443 G / C
gnomAD v2:
2-179466443-G-C
gnomAD v3:
2-178601716-G-C
gnomAD v4:
2-178601716-G-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601716G>C , CM000664.2:g.178601716G>C | GRCh38 |
| NC_000002.11:g.179466443G>C , CM000664.1:g.179466443G>C | GRCh37 |
| NC_000002.10:g.179174688G>C | NCBI36 |
| NG_011618.3:g.234087C>G , LRG_391:g.234087C>G | |
| NG_051363.1:g.83890G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47670C>G (TTN) | ENSP00000343764.6:p.Ser15890Arg | |
| ENST00000342175.11:c.28755C>G (TTN) | ENSP00000340554.6:p.Ser9585Arg | |
| ENST00000359218.10:c.28554C>G (TTN) | ENSP00000352154.5:p.Ser9518Arg | |
| ENST00000342175.10:c.28755C>G (TTN) | ENSP00000340554.6:p.Ser9585Arg | |
| ENST00000342992.10:c.47670C>G (TTN) | ENSP00000343764.6:p.Ser15890Arg | |
| ENST00000359218.9:c.28554C>G (TTN) | ENSP00000352154.5:p.Ser9518Arg | |
| ENST00000460472.6:c.28179C>G (TTN) | ENSP00000434586.1:p.Ser9393Arg | |
| ENST00000589042.5:c.55374C>G (TTN) MANE Select | ENSP00000467141.1:p.Ser18458Arg | |
| ENST00000591111.5:c.50451C>G (TTN) | ENSP00000465570.1:p.Ser16817Arg | |
| ENST00000615779.4:c.50451C>G (TTN) | ENSP00000483597.1:p.Ser16817Arg | |
| NM_001256850.1:c.50451C>G (TTN) | NP_001243779.1:p.Ser16817Arg | |
| NM_001267550.2:c.55374C>G (TTN) MANE Select | NP_001254479.2:p.Ser18458Arg | |
| NM_003319.4:c.28179C>G (TTN) | NP_003310.4:p.Ser9393Arg | |
| NM_133378.4:c.47670C>G (TTN) | NP_596869.4:p.Ser15890Arg | |
| NM_133432.3:c.28554C>G (TTN) | NP_597676.3:p.Ser9518Arg | |
| NM_133437.4:c.28755C>G (TTN) | NP_597681.4:p.Ser9585Arg | |
| NR_038271.1:n.682+4035G>C (TTN-AS1) | ||
| NR_038272.1:n.3917+1049G>C (TTN-AS1) | ||
| XM_011511729.1:c.54471C>G (TTN) | XP_011510031.1:p.Ser18157Arg | |
| XM_011511730.1:c.28365C>G (TTN) | XP_011510032.1:p.Ser9455Arg | |
| XM_011511731.1:c.28224C>G (TTN) | XP_011510033.1:p.Ser9408Arg | |
| XM_017004819.1:c.54267C>G (TTN) | XP_016860308.1:p.Ser18089Arg | |
| XM_017004820.1:c.49665C>G (TTN) | XP_016860309.1:p.Ser16555Arg | |
| XM_017004821.1:c.49662C>G (TTN) | XP_016860310.1:p.Ser16554Arg | |
| XM_017004822.1:c.46704C>G (TTN) | XP_016860311.1:p.Ser15568Arg | |
| XM_017004823.1:c.28320C>G (TTN) | XP_016860312.1:p.Ser9440Arg | |
| XM_024453094.1:c.49815C>G (TTN) | XP_024308862.1:p.Ser16605Arg | |
| XM_024453095.1:c.49812C>G (TTN) | XP_024308863.1:p.Ser16604Arg | |
| XM_024453096.1:c.49245C>G (TTN) | XP_024308864.1:p.Ser16415Arg | |
| XM_024453097.1:c.46587C>G (TTN) | XP_024308865.1:p.Ser15529Arg | |
| XM_024453098.1:c.46506C>G (TTN) | XP_024308866.1:p.Ser15502Arg | |
| XM_024453099.1:c.28269C>G (TTN) | XP_024308867.1:p.Ser9423Arg | |
| XM_024453100.1:c.18123C>G (TTN) | XP_024308868.1:p.Ser6041Arg |