Linked Data
ClinVar Variation Id:
332774
dbSNP Id:
rs747430905
ExAC:
2:179433210 G / A
gnomAD v2:
2-179433210-G-A
gnomAD v3:
2-178568483-G-A
gnomAD v4:
2-178568483-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568483G>A , CM000664.2:g.178568483G>A | GRCh38 |
| NC_000002.11:g.179433210G>A , CM000664.1:g.179433210G>A | GRCh37 |
| NC_000002.10:g.179141456G>A | NCBI36 |
| NG_011618.3:g.267320C>T , LRG_391:g.267320C>T | |
| NG_051363.1:g.50657G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69945C>T (TTN) | ENSP00000343764.6:p.Ile23315= | |
| ENST00000342175.11:c.51030C>T (TTN) | ENSP00000340554.6:p.Ile17010= | |
| ENST00000359218.10:c.50829C>T (TTN) | ENSP00000352154.5:p.Ile16943= | |
| ENST00000342175.10:c.51030C>T (TTN) | ENSP00000340554.6:p.Ile17010= | |
| ENST00000342992.10:c.69945C>T (TTN) | ENSP00000343764.6:p.Ile23315= | |
| ENST00000359218.9:c.50829C>T (TTN) | ENSP00000352154.5:p.Ile16943= | |
| ENST00000460472.6:c.50454C>T (TTN) | ENSP00000434586.1:p.Ile16818= | |
| ENST00000589042.5:c.77649C>T (TTN) MANE Select | ENSP00000467141.1:p.Ile25883= | |
| ENST00000591111.5:c.72726C>T (TTN) | ENSP00000465570.1:p.Ile24242= | |
| ENST00000615779.4:c.72726C>T (TTN) | ENSP00000483597.1:p.Ile24242= | |
| NM_001256850.1:c.72726C>T (TTN) | NP_001243779.1:p.Ile24242= | |
| NM_001267550.2:c.77649C>T (TTN) MANE Select | NP_001254479.2:p.Ile25883= | |
| NM_003319.4:c.50454C>T (TTN) | NP_003310.4:p.Ile16818= | |
| NM_133378.4:c.69945C>T (TTN) | NP_596869.4:p.Ile23315= | |
| NM_133432.3:c.50829C>T (TTN) | NP_597676.3:p.Ile16943= | |
| NM_133437.4:c.51030C>T (TTN) | NP_597681.4:p.Ile17010= | |
| NR_038271.1:n.447-2817G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-14089G>A (TTN-AS1) | ||
| XM_011511729.1:c.76746C>T (TTN) | XP_011510031.1:p.Ile25582= | |
| XM_011511730.1:c.50640C>T (TTN) | XP_011510032.1:p.Ile16880= | |
| XM_011511731.1:c.50499C>T (TTN) | XP_011510033.1:p.Ile16833= | |
| XM_017004819.1:c.76542C>T (TTN) | XP_016860308.1:p.Ile25514= | |
| XM_017004820.1:c.71940C>T (TTN) | XP_016860309.1:p.Ile23980= | |
| XM_017004821.1:c.71937C>T (TTN) | XP_016860310.1:p.Ile23979= | |
| XM_017004822.1:c.68979C>T (TTN) | XP_016860311.1:p.Ile22993= | |
| XM_017004823.1:c.50595C>T (TTN) | XP_016860312.1:p.Ile16865= | |
| XM_024453094.1:c.72090C>T (TTN) | XP_024308862.1:p.Ile24030= | |
| XM_024453095.1:c.72087C>T (TTN) | XP_024308863.1:p.Ile24029= | |
| XM_024453096.1:c.71520C>T (TTN) | XP_024308864.1:p.Ile23840= | |
| XM_024453097.1:c.68862C>T (TTN) | XP_024308865.1:p.Ile22954= | |
| XM_024453098.1:c.68781C>T (TTN) | XP_024308866.1:p.Ile22927= | |
| XM_024453099.1:c.50544C>T (TTN) | XP_024308867.1:p.Ile16848= | |
| XM_024453100.1:c.40398C>T (TTN) | XP_024308868.1:p.Ile13466= |