Linked Data
ClinVar Variation Id:
228098
ClinVar RCV Id:
RCV000214390
RCV000533563
RCV001129198
RCV001129197
RCV001129199
RCV001129200
RCV001129201
RCV001170841
RCV001711997
RCV002415898
dbSNP Id:
rs374281025
ExAC:
2:179482699 G / A
gnomAD v2:
2-179482699-G-A
gnomAD v3:
2-178617972-G-A
gnomAD v4:
2-178617972-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617972G>A , CM000664.2:g.178617972G>A | GRCh38 |
| NC_000002.11:g.179482699G>A , CM000664.1:g.179482699G>A | GRCh37 |
| NC_000002.10:g.179190944G>A | NCBI36 |
| NG_011618.3:g.217831C>T , LRG_391:g.217831C>T | |
| NG_051363.1:g.100146G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39675C>T (TTN) | ENSP00000343764.6:p.Tyr13225= | |
| ENST00000342175.11:c.20760C>T (TTN) | ENSP00000340554.6:p.Tyr6920= | |
| ENST00000359218.10:c.20559C>T (TTN) | ENSP00000352154.5:p.Tyr6853= | |
| ENST00000342175.10:c.20760C>T (TTN) | ENSP00000340554.6:p.Tyr6920= | |
| ENST00000342992.10:c.39675C>T (TTN) | ENSP00000343764.6:p.Tyr13225= | |
| ENST00000359218.9:c.20559C>T (TTN) | ENSP00000352154.5:p.Tyr6853= | |
| ENST00000460472.6:c.20184C>T (TTN) | ENSP00000434586.1:p.Tyr6728= | |
| ENST00000589042.5:c.47379C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr15793= | |
| ENST00000591111.5:c.42456C>T (TTN) | ENSP00000465570.1:p.Tyr14152= | |
| ENST00000615779.4:c.42456C>T (TTN) | ENSP00000483597.1:p.Tyr14152= | |
| NM_001256850.1:c.42456C>T (TTN) | NP_001243779.1:p.Tyr14152= | |
| NM_001267550.2:c.47379C>T (TTN) MANE Select | NP_001254479.2:p.Tyr15793= | |
| NM_003319.4:c.20184C>T (TTN) | NP_003310.4:p.Tyr6728= | |
| NM_133378.4:c.39675C>T (TTN) | NP_596869.4:p.Tyr13225= | |
| NM_133432.3:c.20559C>T (TTN) | NP_597676.3:p.Tyr6853= | |
| NM_133437.4:c.20760C>T (TTN) | NP_597681.4:p.Tyr6920= | |
| NR_038271.1:n.1605-1781G>A (TTN-AS1) | ||
| XM_011511729.1:c.46476C>T (TTN) | XP_011510031.1:p.Tyr15492= | |
| XM_011511730.1:c.20370C>T (TTN) | XP_011510032.1:p.Tyr6790= | |
| XM_011511731.1:c.20229C>T (TTN) | XP_011510033.1:p.Tyr6743= | |
| XM_017004819.1:c.46272C>T (TTN) | XP_016860308.1:p.Tyr15424= | |
| XM_017004820.1:c.41670C>T (TTN) | XP_016860309.1:p.Tyr13890= | |
| XM_017004821.1:c.41667C>T (TTN) | XP_016860310.1:p.Tyr13889= | |
| XM_017004822.1:c.38709C>T (TTN) | XP_016860311.1:p.Tyr12903= | |
| XM_017004823.1:c.20325C>T (TTN) | XP_016860312.1:p.Tyr6775= | |
| XM_024453094.1:c.41820C>T (TTN) | XP_024308862.1:p.Tyr13940= | |
| XM_024453095.1:c.41817C>T (TTN) | XP_024308863.1:p.Tyr13939= | |
| XM_024453096.1:c.41250C>T (TTN) | XP_024308864.1:p.Tyr13750= | |
| XM_024453097.1:c.38592C>T (TTN) | XP_024308865.1:p.Tyr12864= | |
| XM_024453098.1:c.38511C>T (TTN) | XP_024308866.1:p.Tyr12837= | |
| XM_024453099.1:c.20274C>T (TTN) | XP_024308867.1:p.Tyr6758= | |
| XM_024453100.1:c.10128C>T (TTN) | XP_024308868.1:p.Tyr3376= |