Linked Data
ClinVar Variation Id:
282004
dbSNP Id:
rs372701206
ExAC:
2:179438136 G / C
gnomAD v2:
2-179438136-G-C
gnomAD v3:
2-178573409-G-C
gnomAD v4:
2-178573409-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573409G>C , CM000664.2:g.178573409G>C | GRCh38 |
| NC_000002.11:g.179438136G>C , CM000664.1:g.179438136G>C | GRCh37 |
| NC_000002.10:g.179146382G>C | NCBI36 |
| NG_011618.3:g.262394C>G , LRG_391:g.262394C>G | |
| NG_051363.1:g.55583G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.65019C>G (TTN) | ENSP00000343764.6:p.Val21673= | |
| ENST00000342175.11:c.46104C>G (TTN) | ENSP00000340554.6:p.Val15368= | |
| ENST00000359218.10:c.45903C>G (TTN) | ENSP00000352154.5:p.Val15301= | |
| ENST00000342175.10:c.46104C>G (TTN) | ENSP00000340554.6:p.Val15368= | |
| ENST00000342992.10:c.65019C>G (TTN) | ENSP00000343764.6:p.Val21673= | |
| ENST00000359218.9:c.45903C>G (TTN) | ENSP00000352154.5:p.Val15301= | |
| ENST00000460472.6:c.45528C>G (TTN) | ENSP00000434586.1:p.Val15176= | |
| ENST00000589042.5:c.72723C>G (TTN) MANE Select | ENSP00000467141.1:p.Val24241= | |
| ENST00000591111.5:c.67800C>G (TTN) | ENSP00000465570.1:p.Val22600= | |
| ENST00000615779.4:c.67800C>G (TTN) | ENSP00000483597.1:p.Val22600= | |
| NM_001256850.1:c.67800C>G (TTN) | NP_001243779.1:p.Val22600= | |
| NM_001267550.2:c.72723C>G (TTN) MANE Select | NP_001254479.2:p.Val24241= | |
| NM_003319.4:c.45528C>G (TTN) | NP_003310.4:p.Val15176= | |
| NM_133378.4:c.65019C>G (TTN) | NP_596869.4:p.Val21673= | |
| NM_133432.3:c.45903C>G (TTN) | NP_597676.3:p.Val15301= | |
| NM_133437.4:c.46104C>G (TTN) | NP_597681.4:p.Val15368= | |
| NR_038271.1:n.596+1960G>C (TTN-AS1) | ||
| NR_038272.1:n.2044-9163G>C (TTN-AS1) | ||
| XM_011511729.1:c.71820C>G (TTN) | XP_011510031.1:p.Val23940= | |
| XM_011511730.1:c.45714C>G (TTN) | XP_011510032.1:p.Val15238= | |
| XM_011511731.1:c.45573C>G (TTN) | XP_011510033.1:p.Val15191= | |
| XM_017004819.1:c.71616C>G (TTN) | XP_016860308.1:p.Val23872= | |
| XM_017004820.1:c.67014C>G (TTN) | XP_016860309.1:p.Val22338= | |
| XM_017004821.1:c.67011C>G (TTN) | XP_016860310.1:p.Val22337= | |
| XM_017004822.1:c.64053C>G (TTN) | XP_016860311.1:p.Val21351= | |
| XM_017004823.1:c.45669C>G (TTN) | XP_016860312.1:p.Val15223= | |
| XM_024453094.1:c.67164C>G (TTN) | XP_024308862.1:p.Val22388= | |
| XM_024453095.1:c.67161C>G (TTN) | XP_024308863.1:p.Val22387= | |
| XM_024453096.1:c.66594C>G (TTN) | XP_024308864.1:p.Val22198= | |
| XM_024453097.1:c.63936C>G (TTN) | XP_024308865.1:p.Val21312= | |
| XM_024453098.1:c.63855C>G (TTN) | XP_024308866.1:p.Val21285= | |
| XM_024453099.1:c.45618C>G (TTN) | XP_024308867.1:p.Val15206= | |
| XM_024453100.1:c.35472C>G (TTN) | XP_024308868.1:p.Val11824= |