Linked Data
ClinVar Variation Id:
165682
dbSNP Id:
rs191054704
ExAC:
2:179404327 T / C
gnomAD v2:
2-179404327-T-C
gnomAD v3:
2-178539600-T-C
gnomAD v4:
2-178539600-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539600T>C , CM000664.2:g.178539600T>C | GRCh38 |
| NC_000002.11:g.179404327T>C , CM000664.1:g.179404327T>C | GRCh37 |
| NC_000002.10:g.179112573T>C | NCBI36 |
| NG_011618.3:g.296203A>G , LRG_391:g.296203A>G | |
| NG_051363.1:g.21774T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90761A>G (TTN) | ENSP00000343764.6:p.Asp30254Gly | |
| ENST00000342175.11:c.71846A>G (TTN) | ENSP00000340554.6:p.Asp23949Gly | |
| ENST00000359218.10:c.71645A>G (TTN) | ENSP00000352154.5:p.Asp23882Gly | |
| ENST00000342175.10:c.71846A>G (TTN) | ENSP00000340554.6:p.Asp23949Gly | |
| ENST00000342992.10:c.90761A>G (TTN) | ENSP00000343764.6:p.Asp30254Gly | |
| ENST00000359218.9:c.71645A>G (TTN) | ENSP00000352154.5:p.Asp23882Gly | |
| ENST00000460472.6:c.71270A>G (TTN) | ENSP00000434586.1:p.Asp23757Gly | |
| ENST00000589042.5:c.98465A>G (TTN) MANE Select | ENSP00000467141.1:p.Asp32822Gly | |
| ENST00000591111.5:c.93542A>G (TTN) | ENSP00000465570.1:p.Asp31181Gly | |
| ENST00000615779.4:c.93542A>G (TTN) | ENSP00000483597.1:p.Asp31181Gly | |
| NM_001256850.1:c.93542A>G (TTN) | NP_001243779.1:p.Asp31181Gly | |
| NM_001267550.2:c.98465A>G (TTN) MANE Select | NP_001254479.2:p.Asp32822Gly | |
| NM_003319.4:c.71270A>G (TTN) | NP_003310.4:p.Asp23757Gly | |
| NM_133378.4:c.90761A>G (TTN) | NP_596869.4:p.Asp30254Gly | |
| NM_133432.3:c.71645A>G (TTN) | NP_597676.3:p.Asp23882Gly | |
| NM_133437.4:c.71846A>G (TTN) | NP_597681.4:p.Asp23949Gly | |
| NR_038271.1:n.446+15964T>C (TTN-AS1) | ||
| NR_038272.1:n.1550T>C (TTN-AS1) | ||
| XM_011511729.1:c.97562A>G (TTN) | XP_011510031.1:p.Asp32521Gly | |
| XM_011511730.1:c.71456A>G (TTN) | XP_011510032.1:p.Asp23819Gly | |
| XM_011511731.1:c.71315A>G (TTN) | XP_011510033.1:p.Asp23772Gly | |
| XM_017004819.1:c.97358A>G (TTN) | XP_016860308.1:p.Asp32453Gly | |
| XM_017004820.1:c.92756A>G (TTN) | XP_016860309.1:p.Asp30919Gly | |
| XM_017004821.1:c.92753A>G (TTN) | XP_016860310.1:p.Asp30918Gly | |
| XM_017004822.1:c.89795A>G (TTN) | XP_016860311.1:p.Asp29932Gly | |
| XM_017004823.1:c.71411A>G (TTN) | XP_016860312.1:p.Asp23804Gly | |
| XM_024453094.1:c.92906A>G (TTN) | XP_024308862.1:p.Asp30969Gly | |
| XM_024453095.1:c.92903A>G (TTN) | XP_024308863.1:p.Asp30968Gly | |
| XM_024453096.1:c.92336A>G (TTN) | XP_024308864.1:p.Asp30779Gly | |
| XM_024453097.1:c.89678A>G (TTN) | XP_024308865.1:p.Asp29893Gly | |
| XM_024453098.1:c.89597A>G (TTN) | XP_024308866.1:p.Asp29866Gly | |
| XM_024453099.1:c.71360A>G (TTN) | XP_024308867.1:p.Asp23787Gly | |
| XM_024453100.1:c.61214A>G (TTN) | XP_024308868.1:p.Asp20405Gly |