Linked Data
ClinVar Variation Id:
47688
dbSNP Id:
rs397517795
ExAC:
2:179396082 G / A
gnomAD v2:
2-179396082-G-A
gnomAD v3:
2-178531355-G-A
gnomAD v4:
2-178531355-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531355G>A , CM000664.2:g.178531355G>A | GRCh38 |
| NC_000002.11:g.179396082G>A , CM000664.1:g.179396082G>A | GRCh37 |
| NC_000002.10:g.179104328G>A | NCBI36 |
| NG_011618.3:g.304448C>T , LRG_391:g.304448C>T | |
| NG_051363.1:g.13529G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97556C>T (TTN) | ENSP00000343764.6:p.Thr32519Met | |
| ENST00000342175.11:c.78641C>T (TTN) | ENSP00000340554.6:p.Thr26214Met | |
| ENST00000359218.10:c.78440C>T (TTN) | ENSP00000352154.5:p.Thr26147Met | |
| ENST00000342175.10:c.78641C>T (TTN) | ENSP00000340554.6:p.Thr26214Met | |
| ENST00000342992.10:c.97556C>T (TTN) | ENSP00000343764.6:p.Thr32519Met | |
| ENST00000359218.9:c.78440C>T (TTN) | ENSP00000352154.5:p.Thr26147Met | |
| ENST00000460472.6:c.78065C>T (TTN) | ENSP00000434586.1:p.Thr26022Met | |
| ENST00000589042.5:c.105260C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr35087Met | |
| ENST00000591111.5:c.100337C>T (TTN) | ENSP00000465570.1:p.Thr33446Met | |
| ENST00000615779.4:c.100337C>T (TTN) | ENSP00000483597.1:p.Thr33446Met | |
| NM_001256850.1:c.100337C>T (TTN) | NP_001243779.1:p.Thr33446Met | |
| NM_001267550.2:c.105260C>T (TTN) MANE Select | NP_001254479.2:p.Thr35087Met | |
| NM_003319.4:c.78065C>T (TTN) | NP_003310.4:p.Thr26022Met | |
| NM_133378.4:c.97556C>T (TTN) | NP_596869.4:p.Thr32519Met | |
| NM_133432.3:c.78440C>T (TTN) | NP_597676.3:p.Thr26147Met | |
| NM_133437.4:c.78641C>T (TTN) | NP_597681.4:p.Thr26214Met | |
| NR_038271.1:n.446+7719G>A (TTN-AS1) | ||
| NR_038272.1:n.220-4377G>A (TTN-AS1) | ||
| XM_011511729.1:c.104357C>T (TTN) | XP_011510031.1:p.Thr34786Met | |
| XM_011511730.1:c.78251C>T (TTN) | XP_011510032.1:p.Thr26084Met | |
| XM_011511731.1:c.78110C>T (TTN) | XP_011510033.1:p.Thr26037Met | |
| XM_017004819.1:c.104153C>T (TTN) | XP_016860308.1:p.Thr34718Met | |
| XM_017004820.1:c.99551C>T (TTN) | XP_016860309.1:p.Thr33184Met | |
| XM_017004821.1:c.99548C>T (TTN) | XP_016860310.1:p.Thr33183Met | |
| XM_017004822.1:c.96590C>T (TTN) | XP_016860311.1:p.Thr32197Met | |
| XM_017004823.1:c.78206C>T (TTN) | XP_016860312.1:p.Thr26069Met | |
| XM_024453094.1:c.99701C>T (TTN) | XP_024308862.1:p.Thr33234Met | |
| XM_024453095.1:c.99698C>T (TTN) | XP_024308863.1:p.Thr33233Met | |
| XM_024453096.1:c.99131C>T (TTN) | XP_024308864.1:p.Thr33044Met | |
| XM_024453097.1:c.96473C>T (TTN) | XP_024308865.1:p.Thr32158Met | |
| XM_024453098.1:c.96392C>T (TTN) | XP_024308866.1:p.Thr32131Met | |
| XM_024453099.1:c.78155C>T (TTN) | XP_024308867.1:p.Thr26052Met | |
| XM_024453100.1:c.68009C>T (TTN) | XP_024308868.1:p.Thr22670Met |