Linked Data
ClinVar Variation Id:
202271
dbSNP Id:
rs372618781
ExAC:
2:179473201 G / T
gnomAD v2:
2-179473201-G-T
gnomAD v3:
2-178608474-G-T
gnomAD v4:
2-178608474-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608474G>T , CM000664.2:g.178608474G>T | GRCh38 |
| NC_000002.11:g.179473201G>T , CM000664.1:g.179473201G>T | GRCh37 |
| NC_000002.10:g.179181446G>T | NCBI36 |
| NG_011618.3:g.227329C>A , LRG_391:g.227329C>A | |
| NG_051363.1:g.90648G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44705C>A (TTN) | ENSP00000343764.6:p.Pro14902Gln | |
| ENST00000342175.11:c.25790C>A (TTN) | ENSP00000340554.6:p.Pro8597Gln | |
| ENST00000359218.10:c.25589C>A (TTN) | ENSP00000352154.5:p.Pro8530Gln | |
| ENST00000342175.10:c.25790C>A (TTN) | ENSP00000340554.6:p.Pro8597Gln | |
| ENST00000342992.10:c.44705C>A (TTN) | ENSP00000343764.6:p.Pro14902Gln | |
| ENST00000359218.9:c.25589C>A (TTN) | ENSP00000352154.5:p.Pro8530Gln | |
| ENST00000460472.6:c.25214C>A (TTN) | ENSP00000434586.1:p.Pro8405Gln | |
| ENST00000589042.5:c.52409C>A (TTN) MANE Select | ENSP00000467141.1:p.Pro17470Gln | |
| ENST00000591111.5:c.47486C>A (TTN) | ENSP00000465570.1:p.Pro15829Gln | |
| ENST00000615779.4:c.47486C>A (TTN) | ENSP00000483597.1:p.Pro15829Gln | |
| NM_001256850.1:c.47486C>A (TTN) | NP_001243779.1:p.Pro15829Gln | |
| NM_001267550.2:c.52409C>A (TTN) MANE Select | NP_001254479.2:p.Pro17470Gln | |
| NM_003319.4:c.25214C>A (TTN) | NP_003310.4:p.Pro8405Gln | |
| NM_133378.4:c.44705C>A (TTN) | NP_596869.4:p.Pro14902Gln | |
| NM_133432.3:c.25589C>A (TTN) | NP_597676.3:p.Pro8530Gln | |
| NM_133437.4:c.25790C>A (TTN) | NP_597681.4:p.Pro8597Gln | |
| NR_038271.1:n.782+208G>T (TTN-AS1) | ||
| XM_011511729.1:c.51506C>A (TTN) | XP_011510031.1:p.Pro17169Gln | |
| XM_011511730.1:c.25400C>A (TTN) | XP_011510032.1:p.Pro8467Gln | |
| XM_011511731.1:c.25259C>A (TTN) | XP_011510033.1:p.Pro8420Gln | |
| XM_017004819.1:c.51302C>A (TTN) | XP_016860308.1:p.Pro17101Gln | |
| XM_017004820.1:c.46700C>A (TTN) | XP_016860309.1:p.Pro15567Gln | |
| XM_017004821.1:c.46697C>A (TTN) | XP_016860310.1:p.Pro15566Gln | |
| XM_017004822.1:c.43739C>A (TTN) | XP_016860311.1:p.Pro14580Gln | |
| XM_017004823.1:c.25355C>A (TTN) | XP_016860312.1:p.Pro8452Gln | |
| XM_024453094.1:c.46850C>A (TTN) | XP_024308862.1:p.Pro15617Gln | |
| XM_024453095.1:c.46847C>A (TTN) | XP_024308863.1:p.Pro15616Gln | |
| XM_024453096.1:c.46280C>A (TTN) | XP_024308864.1:p.Pro15427Gln | |
| XM_024453097.1:c.43622C>A (TTN) | XP_024308865.1:p.Pro14541Gln | |
| XM_024453098.1:c.43541C>A (TTN) | XP_024308866.1:p.Pro14514Gln | |
| XM_024453099.1:c.25304C>A (TTN) | XP_024308867.1:p.Pro8435Gln | |
| XM_024453100.1:c.15158C>A (TTN) | XP_024308868.1:p.Pro5053Gln |