Linked Data
ClinVar Variation Id:
47016
ClinVar RCV Id:
RCV000040286
RCV000227469
RCV000337139
RCV000285222
RCV000342472
RCV000302752
RCV000391758
RCV000621575
RCV000769005
RCV001085025
dbSNP Id:
rs138576504
ExAC:
2:179482075 G / A
gnomAD v2:
2-179482075-G-A
gnomAD v3:
2-178617348-G-A
gnomAD v4:
2-178617348-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178617348G>A , CM000664.2:g.178617348G>A | GRCh38 |
| NC_000002.11:g.179482075G>A , CM000664.1:g.179482075G>A | GRCh37 |
| NC_000002.10:g.179190320G>A | NCBI36 |
| NG_011618.3:g.218455C>T , LRG_391:g.218455C>T | |
| NG_051363.1:g.99522G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.40033C>T (TTN) | ENSP00000343764.6:p.Leu13345Phe | |
| ENST00000342175.11:c.21118C>T (TTN) | ENSP00000340554.6:p.Leu7040Phe | |
| ENST00000359218.10:c.20917C>T (TTN) | ENSP00000352154.5:p.Leu6973Phe | |
| ENST00000342175.10:c.21118C>T (TTN) | ENSP00000340554.6:p.Leu7040Phe | |
| ENST00000342992.10:c.40033C>T (TTN) | ENSP00000343764.6:p.Leu13345Phe | |
| ENST00000359218.9:c.20917C>T (TTN) | ENSP00000352154.5:p.Leu6973Phe | |
| ENST00000460472.6:c.20542C>T (TTN) | ENSP00000434586.1:p.Leu6848Phe | |
| ENST00000589042.5:c.47737C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu15913Phe | |
| ENST00000591111.5:c.42814C>T (TTN) | ENSP00000465570.1:p.Leu14272Phe | |
| ENST00000615779.4:c.42814C>T (TTN) | ENSP00000483597.1:p.Leu14272Phe | |
| NM_001256850.1:c.42814C>T (TTN) | NP_001243779.1:p.Leu14272Phe | |
| NM_001267550.2:c.47737C>T (TTN) MANE Select | NP_001254479.2:p.Leu15913Phe | |
| NM_003319.4:c.20542C>T (TTN) | NP_003310.4:p.Leu6848Phe | |
| NM_133378.4:c.40033C>T (TTN) | NP_596869.4:p.Leu13345Phe | |
| NM_133432.3:c.20917C>T (TTN) | NP_597676.3:p.Leu6973Phe | |
| NM_133437.4:c.21118C>T (TTN) | NP_597681.4:p.Leu7040Phe | |
| NR_038271.1:n.1604+1974G>A (TTN-AS1) | ||
| XM_011511729.1:c.46834C>T (TTN) | XP_011510031.1:p.Leu15612Phe | |
| XM_011511730.1:c.20728C>T (TTN) | XP_011510032.1:p.Leu6910Phe | |
| XM_011511731.1:c.20587C>T (TTN) | XP_011510033.1:p.Leu6863Phe | |
| XM_017004819.1:c.46630C>T (TTN) | XP_016860308.1:p.Leu15544Phe | |
| XM_017004820.1:c.42028C>T (TTN) | XP_016860309.1:p.Leu14010Phe | |
| XM_017004821.1:c.42025C>T (TTN) | XP_016860310.1:p.Leu14009Phe | |
| XM_017004822.1:c.39067C>T (TTN) | XP_016860311.1:p.Leu13023Phe | |
| XM_017004823.1:c.20683C>T (TTN) | XP_016860312.1:p.Leu6895Phe | |
| XM_024453094.1:c.42178C>T (TTN) | XP_024308862.1:p.Leu14060Phe | |
| XM_024453095.1:c.42175C>T (TTN) | XP_024308863.1:p.Leu14059Phe | |
| XM_024453096.1:c.41608C>T (TTN) | XP_024308864.1:p.Leu13870Phe | |
| XM_024453097.1:c.38950C>T (TTN) | XP_024308865.1:p.Leu12984Phe | |
| XM_024453098.1:c.38869C>T (TTN) | XP_024308866.1:p.Leu12957Phe | |
| XM_024453099.1:c.20632C>T (TTN) | XP_024308867.1:p.Leu6878Phe | |
| XM_024453100.1:c.10486C>T (TTN) | XP_024308868.1:p.Leu3496Phe |