Linked Data
ClinVar Variation Id:
195707
dbSNP Id:
rs779518431
ExAC:
2:179475022 G / T
gnomAD v2:
2-179475022-G-T
gnomAD v3:
2-178610295-G-T
gnomAD v4:
2-178610295-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178610295G>T , CM000664.2:g.178610295G>T | GRCh38 |
| NC_000002.11:g.179475022G>T , CM000664.1:g.179475022G>T | GRCh37 |
| NC_000002.10:g.179183267G>T | NCBI36 |
| NG_011618.3:g.225508C>A , LRG_391:g.225508C>A | |
| NG_051363.1:g.92469G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43527C>A (TTN) | ENSP00000343764.6:p.Thr14509= | |
| ENST00000342175.11:c.24612C>A (TTN) | ENSP00000340554.6:p.Thr8204= | |
| ENST00000359218.10:c.24411C>A (TTN) | ENSP00000352154.5:p.Thr8137= | |
| ENST00000342175.10:c.24612C>A (TTN) | ENSP00000340554.6:p.Thr8204= | |
| ENST00000342992.10:c.43527C>A (TTN) | ENSP00000343764.6:p.Thr14509= | |
| ENST00000359218.9:c.24411C>A (TTN) | ENSP00000352154.5:p.Thr8137= | |
| ENST00000460472.6:c.24036C>A (TTN) | ENSP00000434586.1:p.Thr8012= | |
| ENST00000589042.5:c.51231C>A (TTN) MANE Select | ENSP00000467141.1:p.Thr17077= | |
| ENST00000591111.5:c.46308C>A (TTN) | ENSP00000465570.1:p.Thr15436= | |
| ENST00000615779.4:c.46308C>A (TTN) | ENSP00000483597.1:p.Thr15436= | |
| NM_001256850.1:c.46308C>A (TTN) | NP_001243779.1:p.Thr15436= | |
| NM_001267550.2:c.51231C>A (TTN) MANE Select | NP_001254479.2:p.Thr17077= | |
| NM_003319.4:c.24036C>A (TTN) | NP_003310.4:p.Thr8012= | |
| NM_133378.4:c.43527C>A (TTN) | NP_596869.4:p.Thr14509= | |
| NM_133432.3:c.24411C>A (TTN) | NP_597676.3:p.Thr8137= | |
| NM_133437.4:c.24612C>A (TTN) | NP_597681.4:p.Thr8204= | |
| NR_038271.1:n.782+2029G>T (TTN-AS1) | ||
| XM_011511729.1:c.50328C>A (TTN) | XP_011510031.1:p.Thr16776= | |
| XM_011511730.1:c.24222C>A (TTN) | XP_011510032.1:p.Thr8074= | |
| XM_011511731.1:c.24081C>A (TTN) | XP_011510033.1:p.Thr8027= | |
| XM_017004819.1:c.50124C>A (TTN) | XP_016860308.1:p.Thr16708= | |
| XM_017004820.1:c.45522C>A (TTN) | XP_016860309.1:p.Thr15174= | |
| XM_017004821.1:c.45519C>A (TTN) | XP_016860310.1:p.Thr15173= | |
| XM_017004822.1:c.42561C>A (TTN) | XP_016860311.1:p.Thr14187= | |
| XM_017004823.1:c.24177C>A (TTN) | XP_016860312.1:p.Thr8059= | |
| XM_024453094.1:c.45672C>A (TTN) | XP_024308862.1:p.Thr15224= | |
| XM_024453095.1:c.45669C>A (TTN) | XP_024308863.1:p.Thr15223= | |
| XM_024453096.1:c.45102C>A (TTN) | XP_024308864.1:p.Thr15034= | |
| XM_024453097.1:c.42444C>A (TTN) | XP_024308865.1:p.Thr14148= | |
| XM_024453098.1:c.42363C>A (TTN) | XP_024308866.1:p.Thr14121= | |
| XM_024453099.1:c.24126C>A (TTN) | XP_024308867.1:p.Thr8042= | |
| XM_024453100.1:c.13980C>A (TTN) | XP_024308868.1:p.Thr4660= |