Linked Data
ClinVar Variation Id:
178169
ClinVar RCV Id:
RCV000154892
RCV000458064
RCV000620291
RCV000725299
RCV001133267
RCV001133263
RCV001133264
RCV001133266
RCV001133265
RCV002467607
RCV003149943
dbSNP Id:
rs373727636
ExAC:
2:179413657 A / G
gnomAD v2:
2-179413657-A-G
gnomAD v3:
2-178548930-A-G
gnomAD v4:
2-178548930-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548930A>G , CM000664.2:g.178548930A>G | GRCh38 |
| NC_000002.11:g.179413657A>G , CM000664.1:g.179413657A>G | GRCh37 |
| NC_000002.10:g.179121903A>G | NCBI36 |
| NG_011618.3:g.286873T>C , LRG_391:g.286873T>C | |
| NG_051363.1:g.31104A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84992T>C (TTN) | ENSP00000343764.6:p.Ile28331Thr | |
| ENST00000342175.11:c.66077T>C (TTN) | ENSP00000340554.6:p.Ile22026Thr | |
| ENST00000359218.10:c.65876T>C (TTN) | ENSP00000352154.5:p.Ile21959Thr | |
| ENST00000342175.10:c.66077T>C (TTN) | ENSP00000340554.6:p.Ile22026Thr | |
| ENST00000342992.10:c.84992T>C (TTN) | ENSP00000343764.6:p.Ile28331Thr | |
| ENST00000359218.9:c.65876T>C (TTN) | ENSP00000352154.5:p.Ile21959Thr | |
| ENST00000460472.6:c.65501T>C (TTN) | ENSP00000434586.1:p.Ile21834Thr | |
| ENST00000589042.5:c.92696T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile30899Thr | |
| ENST00000591111.5:c.87773T>C (TTN) | ENSP00000465570.1:p.Ile29258Thr | |
| ENST00000615779.4:c.87773T>C (TTN) | ENSP00000483597.1:p.Ile29258Thr | |
| NM_001256850.1:c.87773T>C (TTN) | NP_001243779.1:p.Ile29258Thr | |
| NM_001267550.2:c.92696T>C (TTN) MANE Select | NP_001254479.2:p.Ile30899Thr | |
| NM_003319.4:c.65501T>C (TTN) | NP_003310.4:p.Ile21834Thr | |
| NM_133378.4:c.84992T>C (TTN) | NP_596869.4:p.Ile28331Thr | |
| NM_133432.3:c.65876T>C (TTN) | NP_597676.3:p.Ile21959Thr | |
| NM_133437.4:c.66077T>C (TTN) | NP_597681.4:p.Ile22026Thr | |
| NR_038271.1:n.447-22370A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+6569A>G (TTN-AS1) | ||
| XM_011511729.1:c.91793T>C (TTN) | XP_011510031.1:p.Ile30598Thr | |
| XM_011511730.1:c.65687T>C (TTN) | XP_011510032.1:p.Ile21896Thr | |
| XM_011511731.1:c.65546T>C (TTN) | XP_011510033.1:p.Ile21849Thr | |
| XM_017004819.1:c.91589T>C (TTN) | XP_016860308.1:p.Ile30530Thr | |
| XM_017004820.1:c.86987T>C (TTN) | XP_016860309.1:p.Ile28996Thr | |
| XM_017004821.1:c.86984T>C (TTN) | XP_016860310.1:p.Ile28995Thr | |
| XM_017004822.1:c.84026T>C (TTN) | XP_016860311.1:p.Ile28009Thr | |
| XM_017004823.1:c.65642T>C (TTN) | XP_016860312.1:p.Ile21881Thr | |
| XM_024453094.1:c.87137T>C (TTN) | XP_024308862.1:p.Ile29046Thr | |
| XM_024453095.1:c.87134T>C (TTN) | XP_024308863.1:p.Ile29045Thr | |
| XM_024453096.1:c.86567T>C (TTN) | XP_024308864.1:p.Ile28856Thr | |
| XM_024453097.1:c.83909T>C (TTN) | XP_024308865.1:p.Ile27970Thr | |
| XM_024453098.1:c.83828T>C (TTN) | XP_024308866.1:p.Ile27943Thr | |
| XM_024453099.1:c.65591T>C (TTN) | XP_024308867.1:p.Ile21864Thr | |
| XM_024453100.1:c.55445T>C (TTN) | XP_024308868.1:p.Ile18482Thr |