Linked Data
ClinVar Variation Id:
404851
dbSNP Id:
rs964263107
gnomAD v2:
2-179464314-T-C
gnomAD v3:
2-178599587-T-C
gnomAD v4:
2-178599587-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178599587T>C , CM000664.2:g.178599587T>C | GRCh38 |
| NC_000002.11:g.179464314T>C , CM000664.1:g.179464314T>C | GRCh37 |
| NC_000002.10:g.179172559T>C | NCBI36 |
| NG_011618.3:g.236216A>G , LRG_391:g.236216A>G | |
| NG_051363.1:g.81761T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.48610A>G (TTN) | ENSP00000343764.6:p.Thr16204Ala | |
| ENST00000342175.11:c.29695A>G (TTN) | ENSP00000340554.6:p.Thr9899Ala | |
| ENST00000359218.10:c.29494A>G (TTN) | ENSP00000352154.5:p.Thr9832Ala | |
| ENST00000342175.10:c.29695A>G (TTN) | ENSP00000340554.6:p.Thr9899Ala | |
| ENST00000342992.10:c.48610A>G (TTN) | ENSP00000343764.6:p.Thr16204Ala | |
| ENST00000359218.9:c.29494A>G (TTN) | ENSP00000352154.5:p.Thr9832Ala | |
| ENST00000460472.6:c.29119A>G (TTN) | ENSP00000434586.1:p.Thr9707Ala | |
| ENST00000589042.5:c.56314A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr18772Ala | |
| ENST00000591111.5:c.51391A>G (TTN) | ENSP00000465570.1:p.Thr17131Ala | |
| ENST00000615779.4:c.51391A>G (TTN) | ENSP00000483597.1:p.Thr17131Ala | |
| NM_001256850.1:c.51391A>G (TTN) | NP_001243779.1:p.Thr17131Ala | |
| NM_001267550.2:c.56314A>G (TTN) MANE Select | NP_001254479.2:p.Thr18772Ala | |
| NM_003319.4:c.29119A>G (TTN) | NP_003310.4:p.Thr9707Ala | |
| NM_133378.4:c.48610A>G (TTN) | NP_596869.4:p.Thr16204Ala | |
| NM_133432.3:c.29494A>G (TTN) | NP_597676.3:p.Thr9832Ala | |
| NM_133437.4:c.29695A>G (TTN) | NP_597681.4:p.Thr9899Ala | |
| NR_038271.1:n.682+1906T>C (TTN-AS1) | ||
| NR_038272.1:n.3569-7T>C (TTN-AS1) | ||
| XM_011511729.1:c.55411A>G (TTN) | XP_011510031.1:p.Thr18471Ala | |
| XM_011511730.1:c.29305A>G (TTN) | XP_011510032.1:p.Thr9769Ala | |
| XM_011511731.1:c.29164A>G (TTN) | XP_011510033.1:p.Thr9722Ala | |
| XM_017004819.1:c.55207A>G (TTN) | XP_016860308.1:p.Thr18403Ala | |
| XM_017004820.1:c.50605A>G (TTN) | XP_016860309.1:p.Thr16869Ala | |
| XM_017004821.1:c.50602A>G (TTN) | XP_016860310.1:p.Thr16868Ala | |
| XM_017004822.1:c.47644A>G (TTN) | XP_016860311.1:p.Thr15882Ala | |
| XM_017004823.1:c.29260A>G (TTN) | XP_016860312.1:p.Thr9754Ala | |
| XM_024453094.1:c.50755A>G (TTN) | XP_024308862.1:p.Thr16919Ala | |
| XM_024453095.1:c.50752A>G (TTN) | XP_024308863.1:p.Thr16918Ala | |
| XM_024453096.1:c.50185A>G (TTN) | XP_024308864.1:p.Thr16729Ala | |
| XM_024453097.1:c.47527A>G (TTN) | XP_024308865.1:p.Thr15843Ala | |
| XM_024453098.1:c.47446A>G (TTN) | XP_024308866.1:p.Thr15816Ala | |
| XM_024453099.1:c.29209A>G (TTN) | XP_024308867.1:p.Thr9737Ala | |
| XM_024453100.1:c.19063A>G (TTN) | XP_024308868.1:p.Thr6355Ala |