Linked Data
ClinVar Variation Id:
202324
dbSNP Id:
rs180828370
ExAC:
2:179438858 C / T
gnomAD v2:
2-179438858-C-T
gnomAD v3:
2-178574131-C-T
gnomAD v4:
2-178574131-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574131C>T , CM000664.2:g.178574131C>T | GRCh38 |
| NC_000002.11:g.179438858C>T , CM000664.1:g.179438858C>T | GRCh37 |
| NC_000002.10:g.179147104C>T | NCBI36 |
| NG_011618.3:g.261672G>A , LRG_391:g.261672G>A | |
| NG_051363.1:g.56305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64297G>A (TTN) | ENSP00000343764.6:p.Ala21433Thr | |
| ENST00000342175.11:c.45382G>A (TTN) | ENSP00000340554.6:p.Ala15128Thr | |
| ENST00000359218.10:c.45181G>A (TTN) | ENSP00000352154.5:p.Ala15061Thr | |
| ENST00000342175.10:c.45382G>A (TTN) | ENSP00000340554.6:p.Ala15128Thr | |
| ENST00000342992.10:c.64297G>A (TTN) | ENSP00000343764.6:p.Ala21433Thr | |
| ENST00000359218.9:c.45181G>A (TTN) | ENSP00000352154.5:p.Ala15061Thr | |
| ENST00000460472.6:c.44806G>A (TTN) | ENSP00000434586.1:p.Ala14936Thr | |
| ENST00000589042.5:c.72001G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala24001Thr | |
| ENST00000591111.5:c.67078G>A (TTN) | ENSP00000465570.1:p.Ala22360Thr | |
| ENST00000615779.4:c.67078G>A (TTN) | ENSP00000483597.1:p.Ala22360Thr | |
| NM_001256850.1:c.67078G>A (TTN) | NP_001243779.1:p.Ala22360Thr | |
| NM_001267550.2:c.72001G>A (TTN) MANE Select | NP_001254479.2:p.Ala24001Thr | |
| NM_003319.4:c.44806G>A (TTN) | NP_003310.4:p.Ala14936Thr | |
| NM_133378.4:c.64297G>A (TTN) | NP_596869.4:p.Ala21433Thr | |
| NM_133432.3:c.45181G>A (TTN) | NP_597676.3:p.Ala15061Thr | |
| NM_133437.4:c.45382G>A (TTN) | NP_597681.4:p.Ala15128Thr | |
| NR_038271.1:n.596+2682C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-8441C>T (TTN-AS1) | ||
| XM_011511729.1:c.71098G>A (TTN) | XP_011510031.1:p.Ala23700Thr | |
| XM_011511730.1:c.44992G>A (TTN) | XP_011510032.1:p.Ala14998Thr | |
| XM_011511731.1:c.44851G>A (TTN) | XP_011510033.1:p.Ala14951Thr | |
| XM_017004819.1:c.70894G>A (TTN) | XP_016860308.1:p.Ala23632Thr | |
| XM_017004820.1:c.66292G>A (TTN) | XP_016860309.1:p.Ala22098Thr | |
| XM_017004821.1:c.66289G>A (TTN) | XP_016860310.1:p.Ala22097Thr | |
| XM_017004822.1:c.63331G>A (TTN) | XP_016860311.1:p.Ala21111Thr | |
| XM_017004823.1:c.44947G>A (TTN) | XP_016860312.1:p.Ala14983Thr | |
| XM_024453094.1:c.66442G>A (TTN) | XP_024308862.1:p.Ala22148Thr | |
| XM_024453095.1:c.66439G>A (TTN) | XP_024308863.1:p.Ala22147Thr | |
| XM_024453096.1:c.65872G>A (TTN) | XP_024308864.1:p.Ala21958Thr | |
| XM_024453097.1:c.63214G>A (TTN) | XP_024308865.1:p.Ala21072Thr | |
| XM_024453098.1:c.63133G>A (TTN) | XP_024308866.1:p.Ala21045Thr | |
| XM_024453099.1:c.44896G>A (TTN) | XP_024308867.1:p.Ala14966Thr | |
| XM_024453100.1:c.34750G>A (TTN) | XP_024308868.1:p.Ala11584Thr |