Linked Data
ClinVar Variation Id:
332816
ClinVar RCV Id:
RCV000283430
RCV000343002
RCV000291470
RCV000377923
RCV000381020
RCV001731612
RCV000869098
dbSNP Id:
rs770684884
ExAC:
2:179454441 C / T
gnomAD v2:
2-179454441-C-T
gnomAD v3:
2-178589714-C-T
gnomAD v4:
2-178589714-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589714C>T , CM000664.2:g.178589714C>T | GRCh38 |
| NC_000002.11:g.179454441C>T , CM000664.1:g.179454441C>T | GRCh37 |
| NC_000002.10:g.179162687C>T | NCBI36 |
| NG_011618.3:g.246089G>A , LRG_391:g.246089G>A | |
| NG_051363.1:g.71888C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54307G>A (TTN) | ENSP00000343764.6:p.Glu18103Lys | |
| ENST00000342175.11:c.35392G>A (TTN) | ENSP00000340554.6:p.Glu11798Lys | |
| ENST00000359218.10:c.35191G>A (TTN) | ENSP00000352154.5:p.Glu11731Lys | |
| ENST00000342175.10:c.35392G>A (TTN) | ENSP00000340554.6:p.Glu11798Lys | |
| ENST00000342992.10:c.54307G>A (TTN) | ENSP00000343764.6:p.Glu18103Lys | |
| ENST00000359218.9:c.35191G>A (TTN) | ENSP00000352154.5:p.Glu11731Lys | |
| ENST00000460472.6:c.34816G>A (TTN) | ENSP00000434586.1:p.Glu11606Lys | |
| ENST00000589042.5:c.62011G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu20671Lys | |
| ENST00000591111.5:c.57088G>A (TTN) | ENSP00000465570.1:p.Glu19030Lys | |
| ENST00000615779.4:c.57088G>A (TTN) | ENSP00000483597.1:p.Glu19030Lys | |
| NM_001256850.1:c.57088G>A (TTN) | NP_001243779.1:p.Glu19030Lys | |
| NM_001267550.2:c.62011G>A (TTN) MANE Select | NP_001254479.2:p.Glu20671Lys | |
| NM_003319.4:c.34816G>A (TTN) | NP_003310.4:p.Glu11606Lys | |
| NM_133378.4:c.54307G>A (TTN) | NP_596869.4:p.Glu18103Lys | |
| NM_133432.3:c.35191G>A (TTN) | NP_597676.3:p.Glu11731Lys | |
| NM_133437.4:c.35392G>A (TTN) | NP_597681.4:p.Glu11798Lys | |
| NR_038271.1:n.597-7882C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-1425C>T (TTN-AS1) | ||
| XM_011511729.1:c.61108G>A (TTN) | XP_011510031.1:p.Glu20370Lys | |
| XM_011511730.1:c.35002G>A (TTN) | XP_011510032.1:p.Glu11668Lys | |
| XM_011511731.1:c.34861G>A (TTN) | XP_011510033.1:p.Glu11621Lys | |
| XM_017004819.1:c.60904G>A (TTN) | XP_016860308.1:p.Glu20302Lys | |
| XM_017004820.1:c.56302G>A (TTN) | XP_016860309.1:p.Glu18768Lys | |
| XM_017004821.1:c.56299G>A (TTN) | XP_016860310.1:p.Glu18767Lys | |
| XM_017004822.1:c.53341G>A (TTN) | XP_016860311.1:p.Glu17781Lys | |
| XM_017004823.1:c.34957G>A (TTN) | XP_016860312.1:p.Glu11653Lys | |
| XM_024453094.1:c.56452G>A (TTN) | XP_024308862.1:p.Glu18818Lys | |
| XM_024453095.1:c.56449G>A (TTN) | XP_024308863.1:p.Glu18817Lys | |
| XM_024453096.1:c.55882G>A (TTN) | XP_024308864.1:p.Glu18628Lys | |
| XM_024453097.1:c.53224G>A (TTN) | XP_024308865.1:p.Glu17742Lys | |
| XM_024453098.1:c.53143G>A (TTN) | XP_024308866.1:p.Glu17715Lys | |
| XM_024453099.1:c.34906G>A (TTN) | XP_024308867.1:p.Glu11636Lys | |
| XM_024453100.1:c.24760G>A (TTN) | XP_024308868.1:p.Glu8254Lys |