Linked Data
ClinVar Variation Id:
497123
dbSNP Id:
rs369068922
ExAC:
2:179442065 G / T
gnomAD v2:
2-179442065-G-T
gnomAD v3:
2-178577338-G-T
gnomAD v4:
2-178577338-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178577338G>T , CM000664.2:g.178577338G>T | GRCh38 |
| NC_000002.11:g.179442065G>T , CM000664.1:g.179442065G>T | GRCh37 |
| NC_000002.10:g.179150311G>T | NCBI36 |
| NG_011618.3:g.258465C>A , LRG_391:g.258465C>A | |
| NG_051363.1:g.59512G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.61293C>A (TTN) | ENSP00000343764.6:p.Thr20431= | |
| ENST00000342175.11:c.42378C>A (TTN) | ENSP00000340554.6:p.Thr14126= | |
| ENST00000359218.10:c.42177C>A (TTN) | ENSP00000352154.5:p.Thr14059= | |
| ENST00000342175.10:c.42378C>A (TTN) | ENSP00000340554.6:p.Thr14126= | |
| ENST00000342992.10:c.61293C>A (TTN) | ENSP00000343764.6:p.Thr20431= | |
| ENST00000359218.9:c.42177C>A (TTN) | ENSP00000352154.5:p.Thr14059= | |
| ENST00000460472.6:c.41802C>A (TTN) | ENSP00000434586.1:p.Thr13934= | |
| ENST00000589042.5:c.68997C>A (TTN) MANE Select | ENSP00000467141.1:p.Thr22999= | |
| ENST00000591111.5:c.64074C>A (TTN) | ENSP00000465570.1:p.Thr21358= | |
| ENST00000615779.4:c.64074C>A (TTN) | ENSP00000483597.1:p.Thr21358= | |
| NM_001256850.1:c.64074C>A (TTN) | NP_001243779.1:p.Thr21358= | |
| NM_001267550.2:c.68997C>A (TTN) MANE Select | NP_001254479.2:p.Thr22999= | |
| NM_003319.4:c.41802C>A (TTN) | NP_003310.4:p.Thr13934= | |
| NM_133378.4:c.61293C>A (TTN) | NP_596869.4:p.Thr20431= | |
| NM_133432.3:c.42177C>A (TTN) | NP_597676.3:p.Thr14059= | |
| NM_133437.4:c.42378C>A (TTN) | NP_597681.4:p.Thr14126= | |
| NR_038271.1:n.596+5889G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-5234G>T (TTN-AS1) | ||
| XM_011511729.1:c.68094C>A (TTN) | XP_011510031.1:p.Thr22698= | |
| XM_011511730.1:c.41988C>A (TTN) | XP_011510032.1:p.Thr13996= | |
| XM_011511731.1:c.41847C>A (TTN) | XP_011510033.1:p.Thr13949= | |
| XM_017004819.1:c.67890C>A (TTN) | XP_016860308.1:p.Thr22630= | |
| XM_017004820.1:c.63288C>A (TTN) | XP_016860309.1:p.Thr21096= | |
| XM_017004821.1:c.63285C>A (TTN) | XP_016860310.1:p.Thr21095= | |
| XM_017004822.1:c.60327C>A (TTN) | XP_016860311.1:p.Thr20109= | |
| XM_017004823.1:c.41943C>A (TTN) | XP_016860312.1:p.Thr13981= | |
| XM_024453094.1:c.63438C>A (TTN) | XP_024308862.1:p.Thr21146= | |
| XM_024453095.1:c.63435C>A (TTN) | XP_024308863.1:p.Thr21145= | |
| XM_024453096.1:c.62868C>A (TTN) | XP_024308864.1:p.Thr20956= | |
| XM_024453097.1:c.60210C>A (TTN) | XP_024308865.1:p.Thr20070= | |
| XM_024453098.1:c.60129C>A (TTN) | XP_024308866.1:p.Thr20043= | |
| XM_024453099.1:c.41892C>A (TTN) | XP_024308867.1:p.Thr13964= | |
| XM_024453100.1:c.31746C>A (TTN) | XP_024308868.1:p.Thr10582= |