Linked Data
ClinVar Variation Id:
47117
ClinVar RCV Id:
RCV000040387
RCV000768980
RCV001130203
RCV001130204
RCV001130205
RCV001130206
RCV001130207
RCV001703902
RCV002433518
dbSNP Id:
rs397517627
ExAC:
2:179463495 G / A
gnomAD v2:
2-179463495-G-A
gnomAD v3:
2-178598768-G-A
gnomAD v4:
2-178598768-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178598768G>A , CM000664.2:g.178598768G>A | GRCh38 |
| NC_000002.11:g.179463495G>A , CM000664.1:g.179463495G>A | GRCh37 |
| NC_000002.10:g.179171740G>A | NCBI36 |
| NG_011618.3:g.237035C>T , LRG_391:g.237035C>T | |
| NG_051363.1:g.80942G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49238C>T (TTN) | ENSP00000343764.6:p.Ala16413Val | |
| ENST00000342175.11:c.30323C>T (TTN) | ENSP00000340554.6:p.Ala10108Val | |
| ENST00000359218.10:c.30122C>T (TTN) | ENSP00000352154.5:p.Ala10041Val | |
| ENST00000342175.10:c.30323C>T (TTN) | ENSP00000340554.6:p.Ala10108Val | |
| ENST00000342992.10:c.49238C>T (TTN) | ENSP00000343764.6:p.Ala16413Val | |
| ENST00000359218.9:c.30122C>T (TTN) | ENSP00000352154.5:p.Ala10041Val | |
| ENST00000460472.6:c.29747C>T (TTN) | ENSP00000434586.1:p.Ala9916Val | |
| ENST00000589042.5:c.56942C>T (TTN) MANE Select | ENSP00000467141.1:p.Ala18981Val | |
| ENST00000591111.5:c.52019C>T (TTN) | ENSP00000465570.1:p.Ala17340Val | |
| ENST00000615779.4:c.52019C>T (TTN) | ENSP00000483597.1:p.Ala17340Val | |
| NM_001256850.1:c.52019C>T (TTN) | NP_001243779.1:p.Ala17340Val | |
| NM_001267550.2:c.56942C>T (TTN) MANE Select | NP_001254479.2:p.Ala18981Val | |
| NM_003319.4:c.29747C>T (TTN) | NP_003310.4:p.Ala9916Val | |
| NM_133378.4:c.49238C>T (TTN) | NP_596869.4:p.Ala16413Val | |
| NM_133432.3:c.30122C>T (TTN) | NP_597676.3:p.Ala10041Val | |
| NM_133437.4:c.30323C>T (TTN) | NP_597681.4:p.Ala10108Val | |
| NR_038271.1:n.682+1087G>A (TTN-AS1) | ||
| NR_038272.1:n.3568+95G>A (TTN-AS1) | ||
| XM_011511729.1:c.56039C>T (TTN) | XP_011510031.1:p.Ala18680Val | |
| XM_011511730.1:c.29933C>T (TTN) | XP_011510032.1:p.Ala9978Val | |
| XM_011511731.1:c.29792C>T (TTN) | XP_011510033.1:p.Ala9931Val | |
| XM_017004819.1:c.55835C>T (TTN) | XP_016860308.1:p.Ala18612Val | |
| XM_017004820.1:c.51233C>T (TTN) | XP_016860309.1:p.Ala17078Val | |
| XM_017004821.1:c.51230C>T (TTN) | XP_016860310.1:p.Ala17077Val | |
| XM_017004822.1:c.48272C>T (TTN) | XP_016860311.1:p.Ala16091Val | |
| XM_017004823.1:c.29888C>T (TTN) | XP_016860312.1:p.Ala9963Val | |
| XM_024453094.1:c.51383C>T (TTN) | XP_024308862.1:p.Ala17128Val | |
| XM_024453095.1:c.51380C>T (TTN) | XP_024308863.1:p.Ala17127Val | |
| XM_024453096.1:c.50813C>T (TTN) | XP_024308864.1:p.Ala16938Val | |
| XM_024453097.1:c.48155C>T (TTN) | XP_024308865.1:p.Ala16052Val | |
| XM_024453098.1:c.48074C>T (TTN) | XP_024308866.1:p.Ala16025Val | |
| XM_024453099.1:c.29837C>T (TTN) | XP_024308867.1:p.Ala9946Val | |
| XM_024453100.1:c.19691C>T (TTN) | XP_024308868.1:p.Ala6564Val |