Linked Data
ClinVar Variation Id:
1607637
dbSNP Id:
rs752424641
ExAC:
2:179401909 C / G
gnomAD v2:
2-179401909-C-G
gnomAD v4:
2-178537182-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537182C>G , CM000664.2:g.178537182C>G | GRCh38 |
| NC_000002.11:g.179401909C>G , CM000664.1:g.179401909C>G | GRCh37 |
| NC_000002.10:g.179110155C>G | NCBI36 |
| NG_011618.3:g.298621G>C , LRG_391:g.298621G>C | |
| NG_051363.1:g.19356C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92223G>C (TTN) | ENSP00000343764.6:p.Val30741= | |
| ENST00000342175.11:c.73308G>C (TTN) | ENSP00000340554.6:p.Val24436= | |
| ENST00000359218.10:c.73107G>C (TTN) | ENSP00000352154.5:p.Val24369= | |
| ENST00000342175.10:c.73308G>C (TTN) | ENSP00000340554.6:p.Val24436= | |
| ENST00000342992.10:c.92223G>C (TTN) | ENSP00000343764.6:p.Val30741= | |
| ENST00000359218.9:c.73107G>C (TTN) | ENSP00000352154.5:p.Val24369= | |
| ENST00000460472.6:c.72732G>C (TTN) | ENSP00000434586.1:p.Val24244= | |
| ENST00000589042.5:c.99927G>C (TTN) MANE Select | ENSP00000467141.1:p.Val33309= | |
| ENST00000591111.5:c.95004G>C (TTN) | ENSP00000465570.1:p.Val31668= | |
| ENST00000615779.4:c.95004G>C (TTN) | ENSP00000483597.1:p.Val31668= | |
| NM_001256850.1:c.95004G>C (TTN) | NP_001243779.1:p.Val31668= | |
| NM_001267550.2:c.99927G>C (TTN) MANE Select | NP_001254479.2:p.Val33309= | |
| NM_003319.4:c.72732G>C (TTN) | NP_003310.4:p.Val24244= | |
| NM_133378.4:c.92223G>C (TTN) | NP_596869.4:p.Val30741= | |
| NM_133432.3:c.73107G>C (TTN) | NP_597676.3:p.Val24369= | |
| NM_133437.4:c.73308G>C (TTN) | NP_597681.4:p.Val24436= | |
| NR_038271.1:n.446+13546C>G (TTN-AS1) | ||
| NR_038272.1:n.317-179C>G (TTN-AS1) | ||
| XM_011511729.1:c.99024G>C (TTN) | XP_011510031.1:p.Val33008= | |
| XM_011511730.1:c.72918G>C (TTN) | XP_011510032.1:p.Val24306= | |
| XM_011511731.1:c.72777G>C (TTN) | XP_011510033.1:p.Val24259= | |
| XM_017004819.1:c.98820G>C (TTN) | XP_016860308.1:p.Val32940= | |
| XM_017004820.1:c.94218G>C (TTN) | XP_016860309.1:p.Val31406= | |
| XM_017004821.1:c.94215G>C (TTN) | XP_016860310.1:p.Val31405= | |
| XM_017004822.1:c.91257G>C (TTN) | XP_016860311.1:p.Val30419= | |
| XM_017004823.1:c.72873G>C (TTN) | XP_016860312.1:p.Val24291= | |
| XM_024453094.1:c.94368G>C (TTN) | XP_024308862.1:p.Val31456= | |
| XM_024453095.1:c.94365G>C (TTN) | XP_024308863.1:p.Val31455= | |
| XM_024453096.1:c.93798G>C (TTN) | XP_024308864.1:p.Val31266= | |
| XM_024453097.1:c.91140G>C (TTN) | XP_024308865.1:p.Val30380= | |
| XM_024453098.1:c.91059G>C (TTN) | XP_024308866.1:p.Val30353= | |
| XM_024453099.1:c.72822G>C (TTN) | XP_024308867.1:p.Val24274= | |
| XM_024453100.1:c.62676G>C (TTN) | XP_024308868.1:p.Val20892= |