Linked Data
ClinVar Variation Id:
283450
ClinVar RCV Id:
RCV000269714
RCV000725274
RCV001085091
RCV001129400
RCV001132114
RCV001129401
RCV001129402
RCV001129403
RCV002356373
RCV002227467
dbSNP Id:
rs375565646
ExAC:
2:179423237 T / C
gnomAD v2:
2-179423237-T-C
gnomAD v3:
2-178558510-T-C
gnomAD v4:
2-178558510-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178558510T>C , CM000664.2:g.178558510T>C | GRCh38 |
| NC_000002.11:g.179423237T>C , CM000664.1:g.179423237T>C | GRCh37 |
| NC_000002.10:g.179131483T>C | NCBI36 |
| NG_011618.3:g.277293A>G , LRG_391:g.277293A>G | |
| NG_051363.1:g.40684T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79245A>G (TTN) | ENSP00000343764.6:p.Glu26415= | |
| ENST00000342175.11:c.60330A>G (TTN) | ENSP00000340554.6:p.Glu20110= | |
| ENST00000359218.10:c.60129A>G (TTN) | ENSP00000352154.5:p.Glu20043= | |
| ENST00000342175.10:c.60330A>G (TTN) | ENSP00000340554.6:p.Glu20110= | |
| ENST00000342992.10:c.79245A>G (TTN) | ENSP00000343764.6:p.Glu26415= | |
| ENST00000359218.9:c.60129A>G (TTN) | ENSP00000352154.5:p.Glu20043= | |
| ENST00000460472.6:c.59754A>G (TTN) | ENSP00000434586.1:p.Glu19918= | |
| ENST00000589042.5:c.86949A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu28983= | |
| ENST00000591111.5:c.82026A>G (TTN) | ENSP00000465570.1:p.Glu27342= | |
| ENST00000615779.4:c.82026A>G (TTN) | ENSP00000483597.1:p.Glu27342= | |
| NM_001256850.1:c.82026A>G (TTN) | NP_001243779.1:p.Glu27342= | |
| NM_001267550.2:c.86949A>G (TTN) MANE Select | NP_001254479.2:p.Glu28983= | |
| NM_003319.4:c.59754A>G (TTN) | NP_003310.4:p.Glu19918= | |
| NM_133378.4:c.79245A>G (TTN) | NP_596869.4:p.Glu26415= | |
| NM_133432.3:c.60129A>G (TTN) | NP_597676.3:p.Glu20043= | |
| NM_133437.4:c.60330A>G (TTN) | NP_597681.4:p.Glu20110= | |
| NR_038271.1:n.447-12790T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+16149T>C (TTN-AS1) | ||
| XM_011511729.1:c.86046A>G (TTN) | XP_011510031.1:p.Glu28682= | |
| XM_011511730.1:c.59940A>G (TTN) | XP_011510032.1:p.Glu19980= | |
| XM_011511731.1:c.59799A>G (TTN) | XP_011510033.1:p.Glu19933= | |
| XM_017004819.1:c.85842A>G (TTN) | XP_016860308.1:p.Glu28614= | |
| XM_017004820.1:c.81240A>G (TTN) | XP_016860309.1:p.Glu27080= | |
| XM_017004821.1:c.81237A>G (TTN) | XP_016860310.1:p.Glu27079= | |
| XM_017004822.1:c.78279A>G (TTN) | XP_016860311.1:p.Glu26093= | |
| XM_017004823.1:c.59895A>G (TTN) | XP_016860312.1:p.Glu19965= | |
| XM_024453094.1:c.81390A>G (TTN) | XP_024308862.1:p.Glu27130= | |
| XM_024453095.1:c.81387A>G (TTN) | XP_024308863.1:p.Glu27129= | |
| XM_024453096.1:c.80820A>G (TTN) | XP_024308864.1:p.Glu26940= | |
| XM_024453097.1:c.78162A>G (TTN) | XP_024308865.1:p.Glu26054= | |
| XM_024453098.1:c.78081A>G (TTN) | XP_024308866.1:p.Glu26027= | |
| XM_024453099.1:c.59844A>G (TTN) | XP_024308867.1:p.Glu19948= | |
| XM_024453100.1:c.49698A>G (TTN) | XP_024308868.1:p.Glu16566= |