Linked Data
ClinVar Variation Id:
500658
dbSNP Id:
rs766610061
ExAC:
2:179483429 C / A
gnomAD v2:
2-179483429-C-A
gnomAD v4:
2-178618702-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618702C>A , CM000664.2:g.178618702C>A | GRCh38 |
| NC_000002.11:g.179483429C>A , CM000664.1:g.179483429C>A | GRCh37 |
| NC_000002.10:g.179191674C>A | NCBI36 |
| NG_011618.3:g.217101G>T , LRG_391:g.217101G>T | |
| NG_051363.1:g.100876C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39144G>T (TTN) | ENSP00000343764.6:p.Thr13048= | |
| ENST00000342175.11:c.20229G>T (TTN) | ENSP00000340554.6:p.Thr6743= | |
| ENST00000359218.10:c.20028G>T (TTN) | ENSP00000352154.5:p.Thr6676= | |
| ENST00000342175.10:c.20229G>T (TTN) | ENSP00000340554.6:p.Thr6743= | |
| ENST00000342992.10:c.39144G>T (TTN) | ENSP00000343764.6:p.Thr13048= | |
| ENST00000359218.9:c.20028G>T (TTN) | ENSP00000352154.5:p.Thr6676= | |
| ENST00000460472.6:c.19653G>T (TTN) | ENSP00000434586.1:p.Thr6551= | |
| ENST00000589042.5:c.46848G>T (TTN) MANE Select | ENSP00000467141.1:p.Thr15616= | |
| ENST00000591111.5:c.41925G>T (TTN) | ENSP00000465570.1:p.Thr13975= | |
| ENST00000615779.4:c.41925G>T (TTN) | ENSP00000483597.1:p.Thr13975= | |
| NM_001256850.1:c.41925G>T (TTN) | NP_001243779.1:p.Thr13975= | |
| NM_001267550.2:c.46848G>T (TTN) MANE Select | NP_001254479.2:p.Thr15616= | |
| NM_003319.4:c.19653G>T (TTN) | NP_003310.4:p.Thr6551= | |
| NM_133378.4:c.39144G>T (TTN) | NP_596869.4:p.Thr13048= | |
| NM_133432.3:c.20028G>T (TTN) | NP_597676.3:p.Thr6676= | |
| NM_133437.4:c.20229G>T (TTN) | NP_597681.4:p.Thr6743= | |
| NR_038271.1:n.1605-1051C>A (TTN-AS1) | ||
| XM_011511729.1:c.45945G>T (TTN) | XP_011510031.1:p.Thr15315= | |
| XM_011511730.1:c.19839G>T (TTN) | XP_011510032.1:p.Thr6613= | |
| XM_011511731.1:c.19698G>T (TTN) | XP_011510033.1:p.Thr6566= | |
| XM_017004819.1:c.45741G>T (TTN) | XP_016860308.1:p.Thr15247= | |
| XM_017004820.1:c.41139G>T (TTN) | XP_016860309.1:p.Thr13713= | |
| XM_017004821.1:c.41136G>T (TTN) | XP_016860310.1:p.Thr13712= | |
| XM_017004822.1:c.38178G>T (TTN) | XP_016860311.1:p.Thr12726= | |
| XM_017004823.1:c.19794G>T (TTN) | XP_016860312.1:p.Thr6598= | |
| XM_024453094.1:c.41289G>T (TTN) | XP_024308862.1:p.Thr13763= | |
| XM_024453095.1:c.41286G>T (TTN) | XP_024308863.1:p.Thr13762= | |
| XM_024453096.1:c.40719G>T (TTN) | XP_024308864.1:p.Thr13573= | |
| XM_024453097.1:c.38061G>T (TTN) | XP_024308865.1:p.Thr12687= | |
| XM_024453098.1:c.37980G>T (TTN) | XP_024308866.1:p.Thr12660= | |
| XM_024453099.1:c.19743G>T (TTN) | XP_024308867.1:p.Thr6581= | |
| XM_024453100.1:c.9597G>T (TTN) | XP_024308868.1:p.Thr3199= |