Linked Data
ClinVar Variation Id:
47485
ClinVar RCV Id:
RCV000040754
RCV000867974
RCV001134365
RCV001134366
RCV001134364
RCV001135832
RCV001135831
RCV002354220
RCV001703911
RCV004541189
dbSNP Id:
rs376289479
ExAC:
2:179418702 G / A
gnomAD v2:
2-179418702-G-A
gnomAD v3:
2-178553975-G-A
gnomAD v4:
2-178553975-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178553975G>A , CM000664.2:g.178553975G>A | GRCh38 |
| NC_000002.11:g.179418702G>A , CM000664.1:g.179418702G>A | GRCh37 |
| NC_000002.10:g.179126948G>A | NCBI36 |
| NG_011618.3:g.281828C>T , LRG_391:g.281828C>T | |
| NG_051363.1:g.36149G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81432C>T (TTN) | ENSP00000343764.6:p.Asn27144= | |
| ENST00000342175.11:c.62517C>T (TTN) | ENSP00000340554.6:p.Asn20839= | |
| ENST00000359218.10:c.62316C>T (TTN) | ENSP00000352154.5:p.Asn20772= | |
| ENST00000342175.10:c.62517C>T (TTN) | ENSP00000340554.6:p.Asn20839= | |
| ENST00000342992.10:c.81432C>T (TTN) | ENSP00000343764.6:p.Asn27144= | |
| ENST00000359218.9:c.62316C>T (TTN) | ENSP00000352154.5:p.Asn20772= | |
| ENST00000460472.6:c.61941C>T (TTN) | ENSP00000434586.1:p.Asn20647= | |
| ENST00000589042.5:c.89136C>T (TTN) MANE Select | ENSP00000467141.1:p.Asn29712= | |
| ENST00000591111.5:c.84213C>T (TTN) | ENSP00000465570.1:p.Asn28071= | |
| ENST00000615779.4:c.84213C>T (TTN) | ENSP00000483597.1:p.Asn28071= | |
| NM_001256850.1:c.84213C>T (TTN) | NP_001243779.1:p.Asn28071= | |
| NM_001267550.2:c.89136C>T (TTN) MANE Select | NP_001254479.2:p.Asn29712= | |
| NM_003319.4:c.61941C>T (TTN) | NP_003310.4:p.Asn20647= | |
| NM_133378.4:c.81432C>T (TTN) | NP_596869.4:p.Asn27144= | |
| NM_133432.3:c.62316C>T (TTN) | NP_597676.3:p.Asn20772= | |
| NM_133437.4:c.62517C>T (TTN) | NP_597681.4:p.Asn20839= | |
| NR_038271.1:n.447-17325G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+11614G>A (TTN-AS1) | ||
| XM_011511729.1:c.88233C>T (TTN) | XP_011510031.1:p.Asn29411= | |
| XM_011511730.1:c.62127C>T (TTN) | XP_011510032.1:p.Asn20709= | |
| XM_011511731.1:c.61986C>T (TTN) | XP_011510033.1:p.Asn20662= | |
| XM_017004819.1:c.88029C>T (TTN) | XP_016860308.1:p.Asn29343= | |
| XM_017004820.1:c.83427C>T (TTN) | XP_016860309.1:p.Asn27809= | |
| XM_017004821.1:c.83424C>T (TTN) | XP_016860310.1:p.Asn27808= | |
| XM_017004822.1:c.80466C>T (TTN) | XP_016860311.1:p.Asn26822= | |
| XM_017004823.1:c.62082C>T (TTN) | XP_016860312.1:p.Asn20694= | |
| XM_024453094.1:c.83577C>T (TTN) | XP_024308862.1:p.Asn27859= | |
| XM_024453095.1:c.83574C>T (TTN) | XP_024308863.1:p.Asn27858= | |
| XM_024453096.1:c.83007C>T (TTN) | XP_024308864.1:p.Asn27669= | |
| XM_024453097.1:c.80349C>T (TTN) | XP_024308865.1:p.Asn26783= | |
| XM_024453098.1:c.80268C>T (TTN) | XP_024308866.1:p.Asn26756= | |
| XM_024453099.1:c.62031C>T (TTN) | XP_024308867.1:p.Asn20677= | |
| XM_024453100.1:c.51885C>T (TTN) | XP_024308868.1:p.Asn17295= |