Linked Data
ClinVar Variation Id:
448821
dbSNP Id:
rs72648219
ExAC:
2:179426656 C / G
gnomAD v2:
2-179426656-C-G
gnomAD v3:
2-178561929-C-G
gnomAD v4:
2-178561929-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561929C>G , CM000664.2:g.178561929C>G | GRCh38 |
| NC_000002.11:g.179426656C>G , CM000664.1:g.179426656C>G | GRCh37 |
| NC_000002.10:g.179134902C>G | NCBI36 |
| NG_011618.3:g.273874G>C , LRG_391:g.273874G>C | |
| NG_051363.1:g.44103C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76499G>C (TTN) | ENSP00000343764.6:p.Ser25500Thr | |
| ENST00000342175.11:c.57584G>C (TTN) | ENSP00000340554.6:p.Ser19195Thr | |
| ENST00000359218.10:c.57383G>C (TTN) | ENSP00000352154.5:p.Ser19128Thr | |
| ENST00000342175.10:c.57584G>C (TTN) | ENSP00000340554.6:p.Ser19195Thr | |
| ENST00000342992.10:c.76499G>C (TTN) | ENSP00000343764.6:p.Ser25500Thr | |
| ENST00000359218.9:c.57383G>C (TTN) | ENSP00000352154.5:p.Ser19128Thr | |
| ENST00000460472.6:c.57008G>C (TTN) | ENSP00000434586.1:p.Ser19003Thr | |
| ENST00000589042.5:c.84203G>C (TTN) MANE Select | ENSP00000467141.1:p.Ser28068Thr | |
| ENST00000591111.5:c.79280G>C (TTN) | ENSP00000465570.1:p.Ser26427Thr | |
| ENST00000615779.4:c.79280G>C (TTN) | ENSP00000483597.1:p.Ser26427Thr | |
| NM_001256850.1:c.79280G>C (TTN) | NP_001243779.1:p.Ser26427Thr | |
| NM_001267550.2:c.84203G>C (TTN) MANE Select | NP_001254479.2:p.Ser28068Thr | |
| NM_003319.4:c.57008G>C (TTN) | NP_003310.4:p.Ser19003Thr | |
| NM_133378.4:c.76499G>C (TTN) | NP_596869.4:p.Ser25500Thr | |
| NM_133432.3:c.57383G>C (TTN) | NP_597676.3:p.Ser19128Thr | |
| NM_133437.4:c.57584G>C (TTN) | NP_597681.4:p.Ser19195Thr | |
| NR_038271.1:n.447-9371C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+19568C>G (TTN-AS1) | ||
| XM_011511729.1:c.83300G>C (TTN) | XP_011510031.1:p.Ser27767Thr | |
| XM_011511730.1:c.57194G>C (TTN) | XP_011510032.1:p.Ser19065Thr | |
| XM_011511731.1:c.57053G>C (TTN) | XP_011510033.1:p.Ser19018Thr | |
| XM_017004819.1:c.83096G>C (TTN) | XP_016860308.1:p.Ser27699Thr | |
| XM_017004820.1:c.78494G>C (TTN) | XP_016860309.1:p.Ser26165Thr | |
| XM_017004821.1:c.78491G>C (TTN) | XP_016860310.1:p.Ser26164Thr | |
| XM_017004822.1:c.75533G>C (TTN) | XP_016860311.1:p.Ser25178Thr | |
| XM_017004823.1:c.57149G>C (TTN) | XP_016860312.1:p.Ser19050Thr | |
| XM_024453094.1:c.78644G>C (TTN) | XP_024308862.1:p.Ser26215Thr | |
| XM_024453095.1:c.78641G>C (TTN) | XP_024308863.1:p.Ser26214Thr | |
| XM_024453096.1:c.78074G>C (TTN) | XP_024308864.1:p.Ser26025Thr | |
| XM_024453097.1:c.75416G>C (TTN) | XP_024308865.1:p.Ser25139Thr | |
| XM_024453098.1:c.75335G>C (TTN) | XP_024308866.1:p.Ser25112Thr | |
| XM_024453099.1:c.57098G>C (TTN) | XP_024308867.1:p.Ser19033Thr | |
| XM_024453100.1:c.46952G>C (TTN) | XP_024308868.1:p.Ser15651Thr |