Linked Data
ClinVar Variation Id:
1575512
ClinVar RCV Id:
RCV002075198
dbSNP Id:
rs779537238
gnomAD v4:
2-178536987-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178536987G>T , CM000664.2:g.178536987G>T | GRCh38 |
| NC_000002.11:g.179401714G>T , CM000664.1:g.179401714G>T | GRCh37 |
| NC_000002.10:g.179109960G>T | NCBI36 |
| NG_011618.3:g.298816C>A , LRG_391:g.298816C>A | |
| NG_051363.1:g.19161G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92418C>A (TTN) | ENSP00000343764.6:p.Ile30806= | |
| ENST00000342175.11:c.73503C>A (TTN) | ENSP00000340554.6:p.Ile24501= | |
| ENST00000359218.10:c.73302C>A (TTN) | ENSP00000352154.5:p.Ile24434= | |
| ENST00000342175.10:c.73503C>A (TTN) | ENSP00000340554.6:p.Ile24501= | |
| ENST00000342992.10:c.92418C>A (TTN) | ENSP00000343764.6:p.Ile30806= | |
| ENST00000359218.9:c.73302C>A (TTN) | ENSP00000352154.5:p.Ile24434= | |
| ENST00000460472.6:c.72927C>A (TTN) | ENSP00000434586.1:p.Ile24309= | |
| ENST00000589042.5:c.100122C>A (TTN) MANE Select | ENSP00000467141.1:p.Ile33374= | |
| ENST00000591111.5:c.95199C>A (TTN) | ENSP00000465570.1:p.Ile31733= | |
| ENST00000615779.4:c.95199C>A (TTN) | ENSP00000483597.1:p.Ile31733= | |
| NM_001256850.1:c.95199C>A (TTN) | NP_001243779.1:p.Ile31733= | |
| NM_001267550.2:c.100122C>A (TTN) MANE Select | NP_001254479.2:p.Ile33374= | |
| NM_003319.4:c.72927C>A (TTN) | NP_003310.4:p.Ile24309= | |
| NM_133378.4:c.92418C>A (TTN) | NP_596869.4:p.Ile30806= | |
| NM_133432.3:c.73302C>A (TTN) | NP_597676.3:p.Ile24434= | |
| NM_133437.4:c.73503C>A (TTN) | NP_597681.4:p.Ile24501= | |
| NR_038271.1:n.446+13351G>T (TTN-AS1) | ||
| NR_038272.1:n.317-374G>T (TTN-AS1) | ||
| XM_011511729.1:c.99219C>A (TTN) | XP_011510031.1:p.Ile33073= | |
| XM_011511730.1:c.73113C>A (TTN) | XP_011510032.1:p.Ile24371= | |
| XM_011511731.1:c.72972C>A (TTN) | XP_011510033.1:p.Ile24324= | |
| XM_017004819.1:c.99015C>A (TTN) | XP_016860308.1:p.Ile33005= | |
| XM_017004820.1:c.94413C>A (TTN) | XP_016860309.1:p.Ile31471= | |
| XM_017004821.1:c.94410C>A (TTN) | XP_016860310.1:p.Ile31470= | |
| XM_017004822.1:c.91452C>A (TTN) | XP_016860311.1:p.Ile30484= | |
| XM_017004823.1:c.73068C>A (TTN) | XP_016860312.1:p.Ile24356= | |
| XM_024453094.1:c.94563C>A (TTN) | XP_024308862.1:p.Ile31521= | |
| XM_024453095.1:c.94560C>A (TTN) | XP_024308863.1:p.Ile31520= | |
| XM_024453096.1:c.93993C>A (TTN) | XP_024308864.1:p.Ile31331= | |
| XM_024453097.1:c.91335C>A (TTN) | XP_024308865.1:p.Ile30445= | |
| XM_024453098.1:c.91254C>A (TTN) | XP_024308866.1:p.Ile30418= | |
| XM_024453099.1:c.73017C>A (TTN) | XP_024308867.1:p.Ile24339= | |
| XM_024453100.1:c.62871C>A (TTN) | XP_024308868.1:p.Ile20957= |