Linked Data
ClinVar Variation Id:
165833
dbSNP Id:
rs374494927
ExAC:
2:179434735 T / A
gnomAD v2:
2-179434735-T-A
gnomAD v3:
2-178570008-T-A
gnomAD v4:
2-178570008-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570008T>A , CM000664.2:g.178570008T>A | GRCh38 |
| NC_000002.11:g.179434735T>A , CM000664.1:g.179434735T>A | GRCh37 |
| NC_000002.10:g.179142981T>A | NCBI36 |
| NG_011618.3:g.265795A>T , LRG_391:g.265795A>T | |
| NG_051363.1:g.52182T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68420A>T (TTN) | ENSP00000343764.6:p.Tyr22807Phe | |
| ENST00000342175.11:c.49505A>T (TTN) | ENSP00000340554.6:p.Tyr16502Phe | |
| ENST00000359218.10:c.49304A>T (TTN) | ENSP00000352154.5:p.Tyr16435Phe | |
| ENST00000342175.10:c.49505A>T (TTN) | ENSP00000340554.6:p.Tyr16502Phe | |
| ENST00000342992.10:c.68420A>T (TTN) | ENSP00000343764.6:p.Tyr22807Phe | |
| ENST00000359218.9:c.49304A>T (TTN) | ENSP00000352154.5:p.Tyr16435Phe | |
| ENST00000460472.6:c.48929A>T (TTN) | ENSP00000434586.1:p.Tyr16310Phe | |
| ENST00000589042.5:c.76124A>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr25375Phe | |
| ENST00000591111.5:c.71201A>T (TTN) | ENSP00000465570.1:p.Tyr23734Phe | |
| ENST00000615779.4:c.71201A>T (TTN) | ENSP00000483597.1:p.Tyr23734Phe | |
| NM_001256850.1:c.71201A>T (TTN) | NP_001243779.1:p.Tyr23734Phe | |
| NM_001267550.2:c.76124A>T (TTN) MANE Select | NP_001254479.2:p.Tyr25375Phe | |
| NM_003319.4:c.48929A>T (TTN) | NP_003310.4:p.Tyr16310Phe | |
| NM_133378.4:c.68420A>T (TTN) | NP_596869.4:p.Tyr22807Phe | |
| NM_133432.3:c.49304A>T (TTN) | NP_597676.3:p.Tyr16435Phe | |
| NM_133437.4:c.49505A>T (TTN) | NP_597681.4:p.Tyr16502Phe | |
| NR_038271.1:n.447-1292T>A (TTN-AS1) | ||
| NR_038272.1:n.2044-12564T>A (TTN-AS1) | ||
| XM_011511729.1:c.75221A>T (TTN) | XP_011510031.1:p.Tyr25074Phe | |
| XM_011511730.1:c.49115A>T (TTN) | XP_011510032.1:p.Tyr16372Phe | |
| XM_011511731.1:c.48974A>T (TTN) | XP_011510033.1:p.Tyr16325Phe | |
| XM_017004819.1:c.75017A>T (TTN) | XP_016860308.1:p.Tyr25006Phe | |
| XM_017004820.1:c.70415A>T (TTN) | XP_016860309.1:p.Tyr23472Phe | |
| XM_017004821.1:c.70412A>T (TTN) | XP_016860310.1:p.Tyr23471Phe | |
| XM_017004822.1:c.67454A>T (TTN) | XP_016860311.1:p.Tyr22485Phe | |
| XM_017004823.1:c.49070A>T (TTN) | XP_016860312.1:p.Tyr16357Phe | |
| XM_024453094.1:c.70565A>T (TTN) | XP_024308862.1:p.Tyr23522Phe | |
| XM_024453095.1:c.70562A>T (TTN) | XP_024308863.1:p.Tyr23521Phe | |
| XM_024453096.1:c.69995A>T (TTN) | XP_024308864.1:p.Tyr23332Phe | |
| XM_024453097.1:c.67337A>T (TTN) | XP_024308865.1:p.Tyr22446Phe | |
| XM_024453098.1:c.67256A>T (TTN) | XP_024308866.1:p.Tyr22419Phe | |
| XM_024453099.1:c.49019A>T (TTN) | XP_024308867.1:p.Tyr16340Phe | |
| XM_024453100.1:c.38873A>T (TTN) | XP_024308868.1:p.Tyr12958Phe |