Linked Data
ClinVar Variation Id:
518891
dbSNP Id:
rs138234724
ExAC:
2:179401778 A / G
gnomAD v2:
2-179401778-A-G
gnomAD v3:
2-178537051-A-G
gnomAD v4:
2-178537051-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178537051A>G , CM000664.2:g.178537051A>G | GRCh38 |
| NC_000002.11:g.179401778A>G , CM000664.1:g.179401778A>G | GRCh37 |
| NC_000002.10:g.179110024A>G | NCBI36 |
| NG_011618.3:g.298752T>C , LRG_391:g.298752T>C | |
| NG_051363.1:g.19225A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92354T>C (TTN) | ENSP00000343764.6:p.Ile30785Thr | |
| ENST00000342175.11:c.73439T>C (TTN) | ENSP00000340554.6:p.Ile24480Thr | |
| ENST00000359218.10:c.73238T>C (TTN) | ENSP00000352154.5:p.Ile24413Thr | |
| ENST00000342175.10:c.73439T>C (TTN) | ENSP00000340554.6:p.Ile24480Thr | |
| ENST00000342992.10:c.92354T>C (TTN) | ENSP00000343764.6:p.Ile30785Thr | |
| ENST00000359218.9:c.73238T>C (TTN) | ENSP00000352154.5:p.Ile24413Thr | |
| ENST00000460472.6:c.72863T>C (TTN) | ENSP00000434586.1:p.Ile24288Thr | |
| ENST00000589042.5:c.100058T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile33353Thr | |
| ENST00000591111.5:c.95135T>C (TTN) | ENSP00000465570.1:p.Ile31712Thr | |
| ENST00000615779.4:c.95135T>C (TTN) | ENSP00000483597.1:p.Ile31712Thr | |
| NM_001256850.1:c.95135T>C (TTN) | NP_001243779.1:p.Ile31712Thr | |
| NM_001267550.2:c.100058T>C (TTN) MANE Select | NP_001254479.2:p.Ile33353Thr | |
| NM_003319.4:c.72863T>C (TTN) | NP_003310.4:p.Ile24288Thr | |
| NM_133378.4:c.92354T>C (TTN) | NP_596869.4:p.Ile30785Thr | |
| NM_133432.3:c.73238T>C (TTN) | NP_597676.3:p.Ile24413Thr | |
| NM_133437.4:c.73439T>C (TTN) | NP_597681.4:p.Ile24480Thr | |
| NR_038271.1:n.446+13415A>G (TTN-AS1) | ||
| NR_038272.1:n.317-310A>G (TTN-AS1) | ||
| XM_011511729.1:c.99155T>C (TTN) | XP_011510031.1:p.Ile33052Thr | |
| XM_011511730.1:c.73049T>C (TTN) | XP_011510032.1:p.Ile24350Thr | |
| XM_011511731.1:c.72908T>C (TTN) | XP_011510033.1:p.Ile24303Thr | |
| XM_017004819.1:c.98951T>C (TTN) | XP_016860308.1:p.Ile32984Thr | |
| XM_017004820.1:c.94349T>C (TTN) | XP_016860309.1:p.Ile31450Thr | |
| XM_017004821.1:c.94346T>C (TTN) | XP_016860310.1:p.Ile31449Thr | |
| XM_017004822.1:c.91388T>C (TTN) | XP_016860311.1:p.Ile30463Thr | |
| XM_017004823.1:c.73004T>C (TTN) | XP_016860312.1:p.Ile24335Thr | |
| XM_024453094.1:c.94499T>C (TTN) | XP_024308862.1:p.Ile31500Thr | |
| XM_024453095.1:c.94496T>C (TTN) | XP_024308863.1:p.Ile31499Thr | |
| XM_024453096.1:c.93929T>C (TTN) | XP_024308864.1:p.Ile31310Thr | |
| XM_024453097.1:c.91271T>C (TTN) | XP_024308865.1:p.Ile30424Thr | |
| XM_024453098.1:c.91190T>C (TTN) | XP_024308866.1:p.Ile30397Thr | |
| XM_024453099.1:c.72953T>C (TTN) | XP_024308867.1:p.Ile24318Thr | |
| XM_024453100.1:c.62807T>C (TTN) | XP_024308868.1:p.Ile20936Thr |