Linked Data
ClinVar Variation Id:
289141
ClinVar RCV Id:
RCV000272727
RCV000277798
RCV000306684
RCV000341744
RCV000364990
RCV000402212
RCV001086859
RCV001170375
RCV002229853
RCV004021270
dbSNP Id:
rs370619063
ExAC:
2:179463566 G / A
gnomAD v2:
2-179463566-G-A
gnomAD v3:
2-178598839-G-A
gnomAD v4:
2-178598839-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178598839G>A , CM000664.2:g.178598839G>A | GRCh38 |
| NC_000002.11:g.179463566G>A , CM000664.1:g.179463566G>A | GRCh37 |
| NC_000002.10:g.179171811G>A | NCBI36 |
| NG_011618.3:g.236964C>T , LRG_391:g.236964C>T | |
| NG_051363.1:g.81013G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49167C>T (TTN) | ENSP00000343764.6:p.Ser16389= | |
| ENST00000342175.11:c.30252C>T (TTN) | ENSP00000340554.6:p.Ser10084= | |
| ENST00000359218.10:c.30051C>T (TTN) | ENSP00000352154.5:p.Ser10017= | |
| ENST00000342175.10:c.30252C>T (TTN) | ENSP00000340554.6:p.Ser10084= | |
| ENST00000342992.10:c.49167C>T (TTN) | ENSP00000343764.6:p.Ser16389= | |
| ENST00000359218.9:c.30051C>T (TTN) | ENSP00000352154.5:p.Ser10017= | |
| ENST00000460472.6:c.29676C>T (TTN) | ENSP00000434586.1:p.Ser9892= | |
| ENST00000589042.5:c.56871C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser18957= | |
| ENST00000591111.5:c.51948C>T (TTN) | ENSP00000465570.1:p.Ser17316= | |
| ENST00000615779.4:c.51948C>T (TTN) | ENSP00000483597.1:p.Ser17316= | |
| NM_001256850.1:c.51948C>T (TTN) | NP_001243779.1:p.Ser17316= | |
| NM_001267550.2:c.56871C>T (TTN) MANE Select | NP_001254479.2:p.Ser18957= | |
| NM_003319.4:c.29676C>T (TTN) | NP_003310.4:p.Ser9892= | |
| NM_133378.4:c.49167C>T (TTN) | NP_596869.4:p.Ser16389= | |
| NM_133432.3:c.30051C>T (TTN) | NP_597676.3:p.Ser10017= | |
| NM_133437.4:c.30252C>T (TTN) | NP_597681.4:p.Ser10084= | |
| NR_038271.1:n.682+1158G>A (TTN-AS1) | ||
| NR_038272.1:n.3568+166G>A (TTN-AS1) | ||
| XM_011511729.1:c.55968C>T (TTN) | XP_011510031.1:p.Ser18656= | |
| XM_011511730.1:c.29862C>T (TTN) | XP_011510032.1:p.Ser9954= | |
| XM_011511731.1:c.29721C>T (TTN) | XP_011510033.1:p.Ser9907= | |
| XM_017004819.1:c.55764C>T (TTN) | XP_016860308.1:p.Ser18588= | |
| XM_017004820.1:c.51162C>T (TTN) | XP_016860309.1:p.Ser17054= | |
| XM_017004821.1:c.51159C>T (TTN) | XP_016860310.1:p.Ser17053= | |
| XM_017004822.1:c.48201C>T (TTN) | XP_016860311.1:p.Ser16067= | |
| XM_017004823.1:c.29817C>T (TTN) | XP_016860312.1:p.Ser9939= | |
| XM_024453094.1:c.51312C>T (TTN) | XP_024308862.1:p.Ser17104= | |
| XM_024453095.1:c.51309C>T (TTN) | XP_024308863.1:p.Ser17103= | |
| XM_024453096.1:c.50742C>T (TTN) | XP_024308864.1:p.Ser16914= | |
| XM_024453097.1:c.48084C>T (TTN) | XP_024308865.1:p.Ser16028= | |
| XM_024453098.1:c.48003C>T (TTN) | XP_024308866.1:p.Ser16001= | |
| XM_024453099.1:c.29766C>T (TTN) | XP_024308867.1:p.Ser9922= | |
| XM_024453100.1:c.19620C>T (TTN) | XP_024308868.1:p.Ser6540= |