Linked Data
ClinVar Variation Id:
467322
dbSNP Id:
rs771977738
ExAC:
2:179457772 T / C
gnomAD v2:
2-179457772-T-C
gnomAD v4:
2-178593045-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593045T>C , CM000664.2:g.178593045T>C | GRCh38 |
| NC_000002.11:g.179457772T>C , CM000664.1:g.179457772T>C | GRCh37 |
| NC_000002.10:g.179166018T>C | NCBI36 |
| NG_011618.3:g.242758A>G , LRG_391:g.242758A>G | |
| NG_051363.1:g.75219T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51370A>G (TTN) | ENSP00000343764.6:p.Thr17124Ala | |
| ENST00000342175.11:c.32455A>G (TTN) | ENSP00000340554.6:p.Thr10819Ala | |
| ENST00000359218.10:c.32254A>G (TTN) | ENSP00000352154.5:p.Thr10752Ala | |
| ENST00000342175.10:c.32455A>G (TTN) | ENSP00000340554.6:p.Thr10819Ala | |
| ENST00000342992.10:c.51370A>G (TTN) | ENSP00000343764.6:p.Thr17124Ala | |
| ENST00000359218.9:c.32254A>G (TTN) | ENSP00000352154.5:p.Thr10752Ala | |
| ENST00000460472.6:c.31879A>G (TTN) | ENSP00000434586.1:p.Thr10627Ala | |
| ENST00000589042.5:c.59074A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr19692Ala | |
| ENST00000591111.5:c.54151A>G (TTN) | ENSP00000465570.1:p.Thr18051Ala | |
| ENST00000615779.4:c.54151A>G (TTN) | ENSP00000483597.1:p.Thr18051Ala | |
| NM_001256850.1:c.54151A>G (TTN) | NP_001243779.1:p.Thr18051Ala | |
| NM_001267550.2:c.59074A>G (TTN) MANE Select | NP_001254479.2:p.Thr19692Ala | |
| NM_003319.4:c.31879A>G (TTN) | NP_003310.4:p.Thr10627Ala | |
| NM_133378.4:c.51370A>G (TTN) | NP_596869.4:p.Thr17124Ala | |
| NM_133432.3:c.32254A>G (TTN) | NP_597676.3:p.Thr10752Ala | |
| NM_133437.4:c.32455A>G (TTN) | NP_597681.4:p.Thr10819Ala | |
| NR_038271.1:n.597-4551T>C (TTN-AS1) | ||
| NR_038272.1:n.3364+1731T>C (TTN-AS1) | ||
| XM_011511729.1:c.58171A>G (TTN) | XP_011510031.1:p.Thr19391Ala | |
| XM_011511730.1:c.32065A>G (TTN) | XP_011510032.1:p.Thr10689Ala | |
| XM_011511731.1:c.31924A>G (TTN) | XP_011510033.1:p.Thr10642Ala | |
| XM_017004819.1:c.57967A>G (TTN) | XP_016860308.1:p.Thr19323Ala | |
| XM_017004820.1:c.53365A>G (TTN) | XP_016860309.1:p.Thr17789Ala | |
| XM_017004821.1:c.53362A>G (TTN) | XP_016860310.1:p.Thr17788Ala | |
| XM_017004822.1:c.50404A>G (TTN) | XP_016860311.1:p.Thr16802Ala | |
| XM_017004823.1:c.32020A>G (TTN) | XP_016860312.1:p.Thr10674Ala | |
| XM_024453094.1:c.53515A>G (TTN) | XP_024308862.1:p.Thr17839Ala | |
| XM_024453095.1:c.53512A>G (TTN) | XP_024308863.1:p.Thr17838Ala | |
| XM_024453096.1:c.52945A>G (TTN) | XP_024308864.1:p.Thr17649Ala | |
| XM_024453097.1:c.50287A>G (TTN) | XP_024308865.1:p.Thr16763Ala | |
| XM_024453098.1:c.50206A>G (TTN) | XP_024308866.1:p.Thr16736Ala | |
| XM_024453099.1:c.31969A>G (TTN) | XP_024308867.1:p.Thr10657Ala | |
| XM_024453100.1:c.21823A>G (TTN) | XP_024308868.1:p.Thr7275Ala |