Linked Data
ClinVar Variation Id:
332725
ClinVar RCV Id:
RCV000284524
RCV000324430
RCV000340044
RCV000378998
RCV000395826
RCV001393465
RCV003278775
RCV003114492
dbSNP Id:
rs764363274
ExAC:
2:179411556 A / G
gnomAD v2:
2-179411556-A-G
gnomAD v3:
2-178546829-A-G
gnomAD v4:
2-178546829-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546829A>G , CM000664.2:g.178546829A>G | GRCh38 |
| NC_000002.11:g.179411556A>G , CM000664.1:g.179411556A>G | GRCh37 |
| NC_000002.10:g.179119802A>G | NCBI36 |
| NG_011618.3:g.288974T>C , LRG_391:g.288974T>C | |
| NG_051363.1:g.29003A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86895T>C (TTN) | ENSP00000343764.6:p.Asp28965= | |
| ENST00000342175.11:c.67980T>C (TTN) | ENSP00000340554.6:p.Asp22660= | |
| ENST00000359218.10:c.67779T>C (TTN) | ENSP00000352154.5:p.Asp22593= | |
| ENST00000342175.10:c.67980T>C (TTN) | ENSP00000340554.6:p.Asp22660= | |
| ENST00000342992.10:c.86895T>C (TTN) | ENSP00000343764.6:p.Asp28965= | |
| ENST00000359218.9:c.67779T>C (TTN) | ENSP00000352154.5:p.Asp22593= | |
| ENST00000460472.6:c.67404T>C (TTN) | ENSP00000434586.1:p.Asp22468= | |
| ENST00000589042.5:c.94599T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp31533= | |
| ENST00000591111.5:c.89676T>C (TTN) | ENSP00000465570.1:p.Asp29892= | |
| ENST00000615779.4:c.89676T>C (TTN) | ENSP00000483597.1:p.Asp29892= | |
| NM_001256850.1:c.89676T>C (TTN) | NP_001243779.1:p.Asp29892= | |
| NM_001267550.2:c.94599T>C (TTN) MANE Select | NP_001254479.2:p.Asp31533= | |
| NM_003319.4:c.67404T>C (TTN) | NP_003310.4:p.Asp22468= | |
| NM_133378.4:c.86895T>C (TTN) | NP_596869.4:p.Asp28965= | |
| NM_133432.3:c.67779T>C (TTN) | NP_597676.3:p.Asp22593= | |
| NM_133437.4:c.67980T>C (TTN) | NP_597681.4:p.Asp22660= | |
| NR_038271.1:n.446+23193A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+4468A>G (TTN-AS1) | ||
| XM_011511729.1:c.93696T>C (TTN) | XP_011510031.1:p.Asp31232= | |
| XM_011511730.1:c.67590T>C (TTN) | XP_011510032.1:p.Asp22530= | |
| XM_011511731.1:c.67449T>C (TTN) | XP_011510033.1:p.Asp22483= | |
| XM_017004819.1:c.93492T>C (TTN) | XP_016860308.1:p.Asp31164= | |
| XM_017004820.1:c.88890T>C (TTN) | XP_016860309.1:p.Asp29630= | |
| XM_017004821.1:c.88887T>C (TTN) | XP_016860310.1:p.Asp29629= | |
| XM_017004822.1:c.85929T>C (TTN) | XP_016860311.1:p.Asp28643= | |
| XM_017004823.1:c.67545T>C (TTN) | XP_016860312.1:p.Asp22515= | |
| XM_024453094.1:c.89040T>C (TTN) | XP_024308862.1:p.Asp29680= | |
| XM_024453095.1:c.89037T>C (TTN) | XP_024308863.1:p.Asp29679= | |
| XM_024453096.1:c.88470T>C (TTN) | XP_024308864.1:p.Asp29490= | |
| XM_024453097.1:c.85812T>C (TTN) | XP_024308865.1:p.Asp28604= | |
| XM_024453098.1:c.85731T>C (TTN) | XP_024308866.1:p.Asp28577= | |
| XM_024453099.1:c.67494T>C (TTN) | XP_024308867.1:p.Asp22498= | |
| XM_024453100.1:c.57348T>C (TTN) | XP_024308868.1:p.Asp19116= |