Linked Data
ClinVar Variation Id:
466669
dbSNP Id:
rs1179247052
gnomAD v2:
2-179418467-C-T
gnomAD v3:
2-178553740-C-T
gnomAD v4:
2-178553740-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178553740C>T , CM000664.2:g.178553740C>T | GRCh38 |
| NC_000002.11:g.179418467C>T , CM000664.1:g.179418467C>T | GRCh37 |
| NC_000002.10:g.179126713C>T | NCBI36 |
| NG_011618.3:g.282063G>A , LRG_391:g.282063G>A | |
| NG_051363.1:g.35914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81561G>A (TTN) | ENSP00000343764.6:p.Trp27187Ter | |
| ENST00000342175.11:c.62646G>A (TTN) | ENSP00000340554.6:p.Trp20882Ter | |
| ENST00000359218.10:c.62445G>A (TTN) | ENSP00000352154.5:p.Trp20815Ter | |
| ENST00000342175.10:c.62646G>A (TTN) | ENSP00000340554.6:p.Trp20882Ter | |
| ENST00000342992.10:c.81561G>A (TTN) | ENSP00000343764.6:p.Trp27187Ter | |
| ENST00000359218.9:c.62445G>A (TTN) | ENSP00000352154.5:p.Trp20815Ter | |
| ENST00000460472.6:c.62070G>A (TTN) | ENSP00000434586.1:p.Trp20690Ter | |
| ENST00000589042.5:c.89265G>A (TTN) MANE Select | ENSP00000467141.1:p.Trp29755Ter | |
| ENST00000591111.5:c.84342G>A (TTN) | ENSP00000465570.1:p.Trp28114Ter | |
| ENST00000615779.4:c.84342G>A (TTN) | ENSP00000483597.1:p.Trp28114Ter | |
| NM_001256850.1:c.84342G>A (TTN) | NP_001243779.1:p.Trp28114Ter | |
| NM_001267550.2:c.89265G>A (TTN) MANE Select | NP_001254479.2:p.Trp29755Ter | |
| NM_003319.4:c.62070G>A (TTN) | NP_003310.4:p.Trp20690Ter | |
| NM_133378.4:c.81561G>A (TTN) | NP_596869.4:p.Trp27187Ter | |
| NM_133432.3:c.62445G>A (TTN) | NP_597676.3:p.Trp20815Ter | |
| NM_133437.4:c.62646G>A (TTN) | NP_597681.4:p.Trp20882Ter | |
| NR_038271.1:n.447-17560C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+11379C>T (TTN-AS1) | ||
| XM_011511729.1:c.88362G>A (TTN) | XP_011510031.1:p.Trp29454Ter | |
| XM_011511730.1:c.62256G>A (TTN) | XP_011510032.1:p.Trp20752Ter | |
| XM_011511731.1:c.62115G>A (TTN) | XP_011510033.1:p.Trp20705Ter | |
| XM_017004819.1:c.88158G>A (TTN) | XP_016860308.1:p.Trp29386Ter | |
| XM_017004820.1:c.83556G>A (TTN) | XP_016860309.1:p.Trp27852Ter | |
| XM_017004821.1:c.83553G>A (TTN) | XP_016860310.1:p.Trp27851Ter | |
| XM_017004822.1:c.80595G>A (TTN) | XP_016860311.1:p.Trp26865Ter | |
| XM_017004823.1:c.62211G>A (TTN) | XP_016860312.1:p.Trp20737Ter | |
| XM_024453094.1:c.83706G>A (TTN) | XP_024308862.1:p.Trp27902Ter | |
| XM_024453095.1:c.83703G>A (TTN) | XP_024308863.1:p.Trp27901Ter | |
| XM_024453096.1:c.83136G>A (TTN) | XP_024308864.1:p.Trp27712Ter | |
| XM_024453097.1:c.80478G>A (TTN) | XP_024308865.1:p.Trp26826Ter | |
| XM_024453098.1:c.80397G>A (TTN) | XP_024308866.1:p.Trp26799Ter | |
| XM_024453099.1:c.62160G>A (TTN) | XP_024308867.1:p.Trp20720Ter | |
| XM_024453100.1:c.52014G>A (TTN) | XP_024308868.1:p.Trp17338Ter |