Linked Data
ClinVar Variation Id:
47545
ClinVar RCV Id:
RCV000040814
RCV000252550
RCV000513556
RCV001082680
RCV000768854
RCV001131865
RCV001132851
RCV001131864
RCV001131866
RCV001131867
RCV004534941
dbSNP Id:
rs72648256
ExAC:
2:179411207 A / T
gnomAD v2:
2-179411207-A-T
gnomAD v3:
2-178546480-A-T
gnomAD v4:
2-178546480-A-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546480A>T , CM000664.2:g.178546480A>T | GRCh38 |
| NC_000002.11:g.179411207A>T , CM000664.1:g.179411207A>T | GRCh37 |
| NC_000002.10:g.179119453A>T | NCBI36 |
| NG_011618.3:g.289323T>A , LRG_391:g.289323T>A | |
| NG_051363.1:g.28654A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87147T>A (TTN) | ENSP00000343764.6:p.Asp29049Glu | |
| ENST00000342175.11:c.68232T>A (TTN) | ENSP00000340554.6:p.Asp22744Glu | |
| ENST00000359218.10:c.68031T>A (TTN) | ENSP00000352154.5:p.Asp22677Glu | |
| ENST00000342175.10:c.68232T>A (TTN) | ENSP00000340554.6:p.Asp22744Glu | |
| ENST00000342992.10:c.87147T>A (TTN) | ENSP00000343764.6:p.Asp29049Glu | |
| ENST00000359218.9:c.68031T>A (TTN) | ENSP00000352154.5:p.Asp22677Glu | |
| ENST00000460472.6:c.67656T>A (TTN) | ENSP00000434586.1:p.Asp22552Glu | |
| ENST00000589042.5:c.94851T>A (TTN) MANE Select | ENSP00000467141.1:p.Asp31617Glu | |
| ENST00000591111.5:c.89928T>A (TTN) | ENSP00000465570.1:p.Asp29976Glu | |
| ENST00000615779.4:c.89928T>A (TTN) | ENSP00000483597.1:p.Asp29976Glu | |
| NM_001256850.1:c.89928T>A (TTN) | NP_001243779.1:p.Asp29976Glu | |
| NM_001267550.2:c.94851T>A (TTN) MANE Select | NP_001254479.2:p.Asp31617Glu | |
| NM_003319.4:c.67656T>A (TTN) | NP_003310.4:p.Asp22552Glu | |
| NM_133378.4:c.87147T>A (TTN) | NP_596869.4:p.Asp29049Glu | |
| NM_133432.3:c.68031T>A (TTN) | NP_597676.3:p.Asp22677Glu | |
| NM_133437.4:c.68232T>A (TTN) | NP_597681.4:p.Asp22744Glu | |
| NR_038271.1:n.446+22844A>T (TTN-AS1) | ||
| NR_038272.1:n.2043+4119A>T (TTN-AS1) | ||
| XM_011511729.1:c.93948T>A (TTN) | XP_011510031.1:p.Asp31316Glu | |
| XM_011511730.1:c.67842T>A (TTN) | XP_011510032.1:p.Asp22614Glu | |
| XM_011511731.1:c.67701T>A (TTN) | XP_011510033.1:p.Asp22567Glu | |
| XM_017004819.1:c.93744T>A (TTN) | XP_016860308.1:p.Asp31248Glu | |
| XM_017004820.1:c.89142T>A (TTN) | XP_016860309.1:p.Asp29714Glu | |
| XM_017004821.1:c.89139T>A (TTN) | XP_016860310.1:p.Asp29713Glu | |
| XM_017004822.1:c.86181T>A (TTN) | XP_016860311.1:p.Asp28727Glu | |
| XM_017004823.1:c.67797T>A (TTN) | XP_016860312.1:p.Asp22599Glu | |
| XM_024453094.1:c.89292T>A (TTN) | XP_024308862.1:p.Asp29764Glu | |
| XM_024453095.1:c.89289T>A (TTN) | XP_024308863.1:p.Asp29763Glu | |
| XM_024453096.1:c.88722T>A (TTN) | XP_024308864.1:p.Asp29574Glu | |
| XM_024453097.1:c.86064T>A (TTN) | XP_024308865.1:p.Asp28688Glu | |
| XM_024453098.1:c.85983T>A (TTN) | XP_024308866.1:p.Asp28661Glu | |
| XM_024453099.1:c.67746T>A (TTN) | XP_024308867.1:p.Asp22582Glu | |
| XM_024453100.1:c.57600T>A (TTN) | XP_024308868.1:p.Asp19200Glu |