Linked Data
ClinVar Variation Id:
404849
dbSNP Id:
rs771801125
ExAC:
2:179470381 G / C
gnomAD v2:
2-179470381-G-C
gnomAD v3:
2-178605654-G-C
gnomAD v4:
2-178605654-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178605654G>C , CM000664.2:g.178605654G>C | GRCh38 |
| NC_000002.11:g.179470381G>C , CM000664.1:g.179470381G>C | GRCh37 |
| NC_000002.10:g.179178626G>C | NCBI36 |
| NG_011618.3:g.230149C>G , LRG_391:g.230149C>G | |
| NG_051363.1:g.87828G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45937C>G (TTN) | ENSP00000343764.6:p.Leu15313Val | |
| ENST00000342175.11:c.27022C>G (TTN) | ENSP00000340554.6:p.Leu9008Val | |
| ENST00000359218.10:c.26821C>G (TTN) | ENSP00000352154.5:p.Leu8941Val | |
| ENST00000342175.10:c.27022C>G (TTN) | ENSP00000340554.6:p.Leu9008Val | |
| ENST00000342992.10:c.45937C>G (TTN) | ENSP00000343764.6:p.Leu15313Val | |
| ENST00000359218.9:c.26821C>G (TTN) | ENSP00000352154.5:p.Leu8941Val | |
| ENST00000460472.6:c.26446C>G (TTN) | ENSP00000434586.1:p.Leu8816Val | |
| ENST00000589042.5:c.53641C>G (TTN) MANE Select | ENSP00000467141.1:p.Leu17881Val | |
| ENST00000591111.5:c.48718C>G (TTN) | ENSP00000465570.1:p.Leu16240Val | |
| ENST00000615779.4:c.48718C>G (TTN) | ENSP00000483597.1:p.Leu16240Val | |
| NM_001256850.1:c.48718C>G (TTN) | NP_001243779.1:p.Leu16240Val | |
| NM_001267550.2:c.53641C>G (TTN) MANE Select | NP_001254479.2:p.Leu17881Val | |
| NM_003319.4:c.26446C>G (TTN) | NP_003310.4:p.Leu8816Val | |
| NM_133378.4:c.45937C>G (TTN) | NP_596869.4:p.Leu15313Val | |
| NM_133432.3:c.26821C>G (TTN) | NP_597676.3:p.Leu8941Val | |
| NM_133437.4:c.27022C>G (TTN) | NP_597681.4:p.Leu9008Val | |
| NR_038271.1:n.683-2513G>C (TTN-AS1) | ||
| XM_011511729.1:c.52738C>G (TTN) | XP_011510031.1:p.Leu17580Val | |
| XM_011511730.1:c.26632C>G (TTN) | XP_011510032.1:p.Leu8878Val | |
| XM_011511731.1:c.26491C>G (TTN) | XP_011510033.1:p.Leu8831Val | |
| XM_017004819.1:c.52534C>G (TTN) | XP_016860308.1:p.Leu17512Val | |
| XM_017004820.1:c.47932C>G (TTN) | XP_016860309.1:p.Leu15978Val | |
| XM_017004821.1:c.47929C>G (TTN) | XP_016860310.1:p.Leu15977Val | |
| XM_017004822.1:c.44971C>G (TTN) | XP_016860311.1:p.Leu14991Val | |
| XM_017004823.1:c.26587C>G (TTN) | XP_016860312.1:p.Leu8863Val | |
| XM_024453094.1:c.48082C>G (TTN) | XP_024308862.1:p.Leu16028Val | |
| XM_024453095.1:c.48079C>G (TTN) | XP_024308863.1:p.Leu16027Val | |
| XM_024453096.1:c.47512C>G (TTN) | XP_024308864.1:p.Leu15838Val | |
| XM_024453097.1:c.44854C>G (TTN) | XP_024308865.1:p.Leu14952Val | |
| XM_024453098.1:c.44773C>G (TTN) | XP_024308866.1:p.Leu14925Val | |
| XM_024453099.1:c.26536C>G (TTN) | XP_024308867.1:p.Leu8846Val | |
| XM_024453100.1:c.16390C>G (TTN) | XP_024308868.1:p.Leu5464Val |