Linked Data
ClinVar Variation Id:
47598
ClinVar RCV Id:
RCV000040867
RCV000118794
RCV000248345
RCV000260558
RCV000264048
RCV000322722
RCV000354955
RCV000321435
RCV000361061
RCV001079943
RCV000768847
RCV002222153
RCV004534950
dbSNP Id:
rs72648273
ExAC:
2:179404498 G / C
gnomAD v2:
2-179404498-G-C
gnomAD v3:
2-178539771-G-C
gnomAD v4:
2-178539771-G-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539771G>C , CM000664.2:g.178539771G>C | GRCh38 |
| NC_000002.11:g.179404498G>C , CM000664.1:g.179404498G>C | GRCh37 |
| NC_000002.10:g.179112744G>C | NCBI36 |
| NG_011618.3:g.296032C>G , LRG_391:g.296032C>G | |
| NG_051363.1:g.21945G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90590C>G (TTN) | ENSP00000343764.6:p.Ala30197Gly | |
| ENST00000342175.11:c.71675C>G (TTN) | ENSP00000340554.6:p.Ala23892Gly | |
| ENST00000359218.10:c.71474C>G (TTN) | ENSP00000352154.5:p.Ala23825Gly | |
| ENST00000342175.10:c.71675C>G (TTN) | ENSP00000340554.6:p.Ala23892Gly | |
| ENST00000342992.10:c.90590C>G (TTN) | ENSP00000343764.6:p.Ala30197Gly | |
| ENST00000359218.9:c.71474C>G (TTN) | ENSP00000352154.5:p.Ala23825Gly | |
| ENST00000460472.6:c.71099C>G (TTN) | ENSP00000434586.1:p.Ala23700Gly | |
| ENST00000589042.5:c.98294C>G (TTN) MANE Select | ENSP00000467141.1:p.Ala32765Gly | |
| ENST00000591111.5:c.93371C>G (TTN) | ENSP00000465570.1:p.Ala31124Gly | |
| ENST00000615779.4:c.93371C>G (TTN) | ENSP00000483597.1:p.Ala31124Gly | |
| NM_001256850.1:c.93371C>G (TTN) | NP_001243779.1:p.Ala31124Gly | |
| NM_001267550.2:c.98294C>G (TTN) MANE Select | NP_001254479.2:p.Ala32765Gly | |
| NM_003319.4:c.71099C>G (TTN) | NP_003310.4:p.Ala23700Gly | |
| NM_133378.4:c.90590C>G (TTN) | NP_596869.4:p.Ala30197Gly | |
| NM_133432.3:c.71474C>G (TTN) | NP_597676.3:p.Ala23825Gly | |
| NM_133437.4:c.71675C>G (TTN) | NP_597681.4:p.Ala23892Gly | |
| NR_038271.1:n.446+16135G>C (TTN-AS1) | ||
| NR_038272.1:n.1721G>C (TTN-AS1) | ||
| XM_011511729.1:c.97391C>G (TTN) | XP_011510031.1:p.Ala32464Gly | |
| XM_011511730.1:c.71285C>G (TTN) | XP_011510032.1:p.Ala23762Gly | |
| XM_011511731.1:c.71144C>G (TTN) | XP_011510033.1:p.Ala23715Gly | |
| XM_017004819.1:c.97187C>G (TTN) | XP_016860308.1:p.Ala32396Gly | |
| XM_017004820.1:c.92585C>G (TTN) | XP_016860309.1:p.Ala30862Gly | |
| XM_017004821.1:c.92582C>G (TTN) | XP_016860310.1:p.Ala30861Gly | |
| XM_017004822.1:c.89624C>G (TTN) | XP_016860311.1:p.Ala29875Gly | |
| XM_017004823.1:c.71240C>G (TTN) | XP_016860312.1:p.Ala23747Gly | |
| XM_024453094.1:c.92735C>G (TTN) | XP_024308862.1:p.Ala30912Gly | |
| XM_024453095.1:c.92732C>G (TTN) | XP_024308863.1:p.Ala30911Gly | |
| XM_024453096.1:c.92165C>G (TTN) | XP_024308864.1:p.Ala30722Gly | |
| XM_024453097.1:c.89507C>G (TTN) | XP_024308865.1:p.Ala29836Gly | |
| XM_024453098.1:c.89426C>G (TTN) | XP_024308866.1:p.Ala29809Gly | |
| XM_024453099.1:c.71189C>G (TTN) | XP_024308867.1:p.Ala23730Gly | |
| XM_024453100.1:c.61043C>G (TTN) | XP_024308868.1:p.Ala20348Gly |