Linked Data
ClinVar Variation Id:
332727
ClinVar RCV Id:
RCV000279338
RCV000349657
RCV000350645
RCV000371523
RCV000405703
RCV000871575
RCV004544610
dbSNP Id:
rs762590394
ExAC:
2:179413847 T / G
gnomAD v2:
2-179413847-T-G
gnomAD v3:
2-178549120-T-G
gnomAD v4:
2-178549120-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549120T>G , CM000664.2:g.178549120T>G | GRCh38 |
| NC_000002.11:g.179413847T>G , CM000664.1:g.179413847T>G | GRCh37 |
| NC_000002.10:g.179122093T>G | NCBI36 |
| NG_011618.3:g.286683A>C , LRG_391:g.286683A>C | |
| NG_051363.1:g.31294T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84802A>C (TTN) | ENSP00000343764.6:p.Thr28268Pro | |
| ENST00000342175.11:c.65887A>C (TTN) | ENSP00000340554.6:p.Thr21963Pro | |
| ENST00000359218.10:c.65686A>C (TTN) | ENSP00000352154.5:p.Thr21896Pro | |
| ENST00000342175.10:c.65887A>C (TTN) | ENSP00000340554.6:p.Thr21963Pro | |
| ENST00000342992.10:c.84802A>C (TTN) | ENSP00000343764.6:p.Thr28268Pro | |
| ENST00000359218.9:c.65686A>C (TTN) | ENSP00000352154.5:p.Thr21896Pro | |
| ENST00000460472.6:c.65311A>C (TTN) | ENSP00000434586.1:p.Thr21771Pro | |
| ENST00000589042.5:c.92506A>C (TTN) MANE Select | ENSP00000467141.1:p.Thr30836Pro | |
| ENST00000591111.5:c.87583A>C (TTN) | ENSP00000465570.1:p.Thr29195Pro | |
| ENST00000615779.4:c.87583A>C (TTN) | ENSP00000483597.1:p.Thr29195Pro | |
| NM_001256850.1:c.87583A>C (TTN) | NP_001243779.1:p.Thr29195Pro | |
| NM_001267550.2:c.92506A>C (TTN) MANE Select | NP_001254479.2:p.Thr30836Pro | |
| NM_003319.4:c.65311A>C (TTN) | NP_003310.4:p.Thr21771Pro | |
| NM_133378.4:c.84802A>C (TTN) | NP_596869.4:p.Thr28268Pro | |
| NM_133432.3:c.65686A>C (TTN) | NP_597676.3:p.Thr21896Pro | |
| NM_133437.4:c.65887A>C (TTN) | NP_597681.4:p.Thr21963Pro | |
| NR_038271.1:n.447-22180T>G (TTN-AS1) | ||
| NR_038272.1:n.2043+6759T>G (TTN-AS1) | ||
| XM_011511729.1:c.91603A>C (TTN) | XP_011510031.1:p.Thr30535Pro | |
| XM_011511730.1:c.65497A>C (TTN) | XP_011510032.1:p.Thr21833Pro | |
| XM_011511731.1:c.65356A>C (TTN) | XP_011510033.1:p.Thr21786Pro | |
| XM_017004819.1:c.91399A>C (TTN) | XP_016860308.1:p.Thr30467Pro | |
| XM_017004820.1:c.86797A>C (TTN) | XP_016860309.1:p.Thr28933Pro | |
| XM_017004821.1:c.86794A>C (TTN) | XP_016860310.1:p.Thr28932Pro | |
| XM_017004822.1:c.83836A>C (TTN) | XP_016860311.1:p.Thr27946Pro | |
| XM_017004823.1:c.65452A>C (TTN) | XP_016860312.1:p.Thr21818Pro | |
| XM_024453094.1:c.86947A>C (TTN) | XP_024308862.1:p.Thr28983Pro | |
| XM_024453095.1:c.86944A>C (TTN) | XP_024308863.1:p.Thr28982Pro | |
| XM_024453096.1:c.86377A>C (TTN) | XP_024308864.1:p.Thr28793Pro | |
| XM_024453097.1:c.83719A>C (TTN) | XP_024308865.1:p.Thr27907Pro | |
| XM_024453098.1:c.83638A>C (TTN) | XP_024308866.1:p.Thr27880Pro | |
| XM_024453099.1:c.65401A>C (TTN) | XP_024308867.1:p.Thr21801Pro | |
| XM_024453100.1:c.55255A>C (TTN) | XP_024308868.1:p.Thr18419Pro |