Linked Data
ClinVar Variation Id:
535729
dbSNP Id:
rs553988103
ExAC:
2:179445328 C / G
gnomAD v2:
2-179445328-C-G
gnomAD v3:
2-178580601-C-G
gnomAD v4:
2-178580601-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178580601C>G , CM000664.2:g.178580601C>G | GRCh38 |
| NC_000002.11:g.179445328C>G , CM000664.1:g.179445328C>G | GRCh37 |
| NC_000002.10:g.179153574C>G | NCBI36 |
| NG_011618.3:g.255202G>C , LRG_391:g.255202G>C | |
| NG_051363.1:g.62775C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.59074G>C (TTN) | ENSP00000343764.6:p.Glu19692Gln | |
| ENST00000342175.11:c.40159G>C (TTN) | ENSP00000340554.6:p.Glu13387Gln | |
| ENST00000359218.10:c.39958G>C (TTN) | ENSP00000352154.5:p.Glu13320Gln | |
| ENST00000342175.10:c.40159G>C (TTN) | ENSP00000340554.6:p.Glu13387Gln | |
| ENST00000342992.10:c.59074G>C (TTN) | ENSP00000343764.6:p.Glu19692Gln | |
| ENST00000359218.9:c.39958G>C (TTN) | ENSP00000352154.5:p.Glu13320Gln | |
| ENST00000460472.6:c.39583G>C (TTN) | ENSP00000434586.1:p.Glu13195Gln | |
| ENST00000589042.5:c.66778G>C (TTN) MANE Select | ENSP00000467141.1:p.Glu22260Gln | |
| ENST00000591111.5:c.61855G>C (TTN) | ENSP00000465570.1:p.Glu20619Gln | |
| ENST00000615779.4:c.61855G>C (TTN) | ENSP00000483597.1:p.Glu20619Gln | |
| NM_001256850.1:c.61855G>C (TTN) | NP_001243779.1:p.Glu20619Gln | |
| NM_001267550.2:c.66778G>C (TTN) MANE Select | NP_001254479.2:p.Glu22260Gln | |
| NM_003319.4:c.39583G>C (TTN) | NP_003310.4:p.Glu13195Gln | |
| NM_133378.4:c.59074G>C (TTN) | NP_596869.4:p.Glu19692Gln | |
| NM_133432.3:c.39958G>C (TTN) | NP_597676.3:p.Glu13320Gln | |
| NM_133437.4:c.40159G>C (TTN) | NP_597681.4:p.Glu13387Gln | |
| NR_038271.1:n.596+9152C>G (TTN-AS1) | ||
| NR_038272.1:n.2044-1971C>G (TTN-AS1) | ||
| XM_011511729.1:c.65875G>C (TTN) | XP_011510031.1:p.Glu21959Gln | |
| XM_011511730.1:c.39769G>C (TTN) | XP_011510032.1:p.Glu13257Gln | |
| XM_011511731.1:c.39628G>C (TTN) | XP_011510033.1:p.Glu13210Gln | |
| XM_017004819.1:c.65671G>C (TTN) | XP_016860308.1:p.Glu21891Gln | |
| XM_017004820.1:c.61069G>C (TTN) | XP_016860309.1:p.Glu20357Gln | |
| XM_017004821.1:c.61066G>C (TTN) | XP_016860310.1:p.Glu20356Gln | |
| XM_017004822.1:c.58108G>C (TTN) | XP_016860311.1:p.Glu19370Gln | |
| XM_017004823.1:c.39724G>C (TTN) | XP_016860312.1:p.Glu13242Gln | |
| XM_024453094.1:c.61219G>C (TTN) | XP_024308862.1:p.Glu20407Gln | |
| XM_024453095.1:c.61216G>C (TTN) | XP_024308863.1:p.Glu20406Gln | |
| XM_024453096.1:c.60649G>C (TTN) | XP_024308864.1:p.Glu20217Gln | |
| XM_024453097.1:c.57991G>C (TTN) | XP_024308865.1:p.Glu19331Gln | |
| XM_024453098.1:c.57910G>C (TTN) | XP_024308866.1:p.Glu19304Gln | |
| XM_024453099.1:c.39673G>C (TTN) | XP_024308867.1:p.Glu13225Gln | |
| XM_024453100.1:c.29527G>C (TTN) | XP_024308868.1:p.Glu9843Gln |