Linked Data
ClinVar Variation Id:
178998
dbSNP Id:
rs534567766
ExAC:
2:179442391 G / A
gnomAD v2:
2-179442391-G-A
gnomAD v3:
2-178577664-G-A
gnomAD v4:
2-178577664-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178577664G>A , CM000664.2:g.178577664G>A | GRCh38 |
| NC_000002.11:g.179442391G>A , CM000664.1:g.179442391G>A | GRCh37 |
| NC_000002.10:g.179150637G>A | NCBI36 |
| NG_011618.3:g.258139C>T , LRG_391:g.258139C>T | |
| NG_051363.1:g.59838G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.61058C>T (TTN) | ENSP00000343764.6:p.Thr20353Ile | |
| ENST00000342175.11:c.42143C>T (TTN) | ENSP00000340554.6:p.Thr14048Ile | |
| ENST00000359218.10:c.41942C>T (TTN) | ENSP00000352154.5:p.Thr13981Ile | |
| ENST00000342175.10:c.42143C>T (TTN) | ENSP00000340554.6:p.Thr14048Ile | |
| ENST00000342992.10:c.61058C>T (TTN) | ENSP00000343764.6:p.Thr20353Ile | |
| ENST00000359218.9:c.41942C>T (TTN) | ENSP00000352154.5:p.Thr13981Ile | |
| ENST00000460472.6:c.41567C>T (TTN) | ENSP00000434586.1:p.Thr13856Ile | |
| ENST00000589042.5:c.68762C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr22921Ile | |
| ENST00000591111.5:c.63839C>T (TTN) | ENSP00000465570.1:p.Thr21280Ile | |
| ENST00000615779.4:c.63839C>T (TTN) | ENSP00000483597.1:p.Thr21280Ile | |
| NM_001256850.1:c.63839C>T (TTN) | NP_001243779.1:p.Thr21280Ile | |
| NM_001267550.2:c.68762C>T (TTN) MANE Select | NP_001254479.2:p.Thr22921Ile | |
| NM_003319.4:c.41567C>T (TTN) | NP_003310.4:p.Thr13856Ile | |
| NM_133378.4:c.61058C>T (TTN) | NP_596869.4:p.Thr20353Ile | |
| NM_133432.3:c.41942C>T (TTN) | NP_597676.3:p.Thr13981Ile | |
| NM_133437.4:c.42143C>T (TTN) | NP_597681.4:p.Thr14048Ile | |
| NR_038271.1:n.596+6215G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-4908G>A (TTN-AS1) | ||
| XM_011511729.1:c.67859C>T (TTN) | XP_011510031.1:p.Thr22620Ile | |
| XM_011511730.1:c.41753C>T (TTN) | XP_011510032.1:p.Thr13918Ile | |
| XM_011511731.1:c.41612C>T (TTN) | XP_011510033.1:p.Thr13871Ile | |
| XM_017004819.1:c.67655C>T (TTN) | XP_016860308.1:p.Thr22552Ile | |
| XM_017004820.1:c.63053C>T (TTN) | XP_016860309.1:p.Thr21018Ile | |
| XM_017004821.1:c.63050C>T (TTN) | XP_016860310.1:p.Thr21017Ile | |
| XM_017004822.1:c.60092C>T (TTN) | XP_016860311.1:p.Thr20031Ile | |
| XM_017004823.1:c.41708C>T (TTN) | XP_016860312.1:p.Thr13903Ile | |
| XM_024453094.1:c.63203C>T (TTN) | XP_024308862.1:p.Thr21068Ile | |
| XM_024453095.1:c.63200C>T (TTN) | XP_024308863.1:p.Thr21067Ile | |
| XM_024453096.1:c.62633C>T (TTN) | XP_024308864.1:p.Thr20878Ile | |
| XM_024453097.1:c.59975C>T (TTN) | XP_024308865.1:p.Thr19992Ile | |
| XM_024453098.1:c.59894C>T (TTN) | XP_024308866.1:p.Thr19965Ile | |
| XM_024453099.1:c.41657C>T (TTN) | XP_024308867.1:p.Thr13886Ile | |
| XM_024453100.1:c.31511C>T (TTN) | XP_024308868.1:p.Thr10504Ile |