Linked Data
ClinVar Variation Id:
202976
dbSNP Id:
rs376494747
ExAC:
2:179416428 T / A
gnomAD v2:
2-179416428-T-A
gnomAD v3:
2-178551701-T-A
gnomAD v4:
2-178551701-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551701T>A , CM000664.2:g.178551701T>A | GRCh38 |
| NC_000002.11:g.179416428T>A , CM000664.1:g.179416428T>A | GRCh37 |
| NC_000002.10:g.179124674T>A | NCBI36 |
| NG_011618.3:g.284102A>T , LRG_391:g.284102A>T | |
| NG_051363.1:g.33875T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83495A>T (TTN) | ENSP00000343764.6:p.Tyr27832Phe | |
| ENST00000342175.11:c.64580A>T (TTN) | ENSP00000340554.6:p.Tyr21527Phe | |
| ENST00000359218.10:c.64379A>T (TTN) | ENSP00000352154.5:p.Tyr21460Phe | |
| ENST00000342175.10:c.64580A>T (TTN) | ENSP00000340554.6:p.Tyr21527Phe | |
| ENST00000342992.10:c.83495A>T (TTN) | ENSP00000343764.6:p.Tyr27832Phe | |
| ENST00000359218.9:c.64379A>T (TTN) | ENSP00000352154.5:p.Tyr21460Phe | |
| ENST00000460472.6:c.64004A>T (TTN) | ENSP00000434586.1:p.Tyr21335Phe | |
| ENST00000589042.5:c.91199A>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr30400Phe | |
| ENST00000591111.5:c.86276A>T (TTN) | ENSP00000465570.1:p.Tyr28759Phe | |
| ENST00000615779.4:c.86276A>T (TTN) | ENSP00000483597.1:p.Tyr28759Phe | |
| NM_001256850.1:c.86276A>T (TTN) | NP_001243779.1:p.Tyr28759Phe | |
| NM_001267550.2:c.91199A>T (TTN) MANE Select | NP_001254479.2:p.Tyr30400Phe | |
| NM_003319.4:c.64004A>T (TTN) | NP_003310.4:p.Tyr21335Phe | |
| NM_133378.4:c.83495A>T (TTN) | NP_596869.4:p.Tyr27832Phe | |
| NM_133432.3:c.64379A>T (TTN) | NP_597676.3:p.Tyr21460Phe | |
| NM_133437.4:c.64580A>T (TTN) | NP_597681.4:p.Tyr21527Phe | |
| NR_038271.1:n.447-19599T>A (TTN-AS1) | ||
| NR_038272.1:n.2043+9340T>A (TTN-AS1) | ||
| XM_011511729.1:c.90296A>T (TTN) | XP_011510031.1:p.Tyr30099Phe | |
| XM_011511730.1:c.64190A>T (TTN) | XP_011510032.1:p.Tyr21397Phe | |
| XM_011511731.1:c.64049A>T (TTN) | XP_011510033.1:p.Tyr21350Phe | |
| XM_017004819.1:c.90092A>T (TTN) | XP_016860308.1:p.Tyr30031Phe | |
| XM_017004820.1:c.85490A>T (TTN) | XP_016860309.1:p.Tyr28497Phe | |
| XM_017004821.1:c.85487A>T (TTN) | XP_016860310.1:p.Tyr28496Phe | |
| XM_017004822.1:c.82529A>T (TTN) | XP_016860311.1:p.Tyr27510Phe | |
| XM_017004823.1:c.64145A>T (TTN) | XP_016860312.1:p.Tyr21382Phe | |
| XM_024453094.1:c.85640A>T (TTN) | XP_024308862.1:p.Tyr28547Phe | |
| XM_024453095.1:c.85637A>T (TTN) | XP_024308863.1:p.Tyr28546Phe | |
| XM_024453096.1:c.85070A>T (TTN) | XP_024308864.1:p.Tyr28357Phe | |
| XM_024453097.1:c.82412A>T (TTN) | XP_024308865.1:p.Tyr27471Phe | |
| XM_024453098.1:c.82331A>T (TTN) | XP_024308866.1:p.Tyr27444Phe | |
| XM_024453099.1:c.64094A>T (TTN) | XP_024308867.1:p.Tyr21365Phe | |
| XM_024453100.1:c.53948A>T (TTN) | XP_024308868.1:p.Tyr17983Phe |