Linked Data
ClinVar Variation Id:
192155
ClinVar RCV Id:
RCV000172636
RCV000214788
RCV000467029
RCV001135367
RCV001135368
RCV001135369
RCV001135366
RCV001135365
RCV001798622
RCV002336416
dbSNP Id:
rs56372592
ExAC:
2:179434120 G / T
gnomAD v2:
2-179434120-G-T
gnomAD v3:
2-178569393-G-T
gnomAD v4:
2-178569393-G-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569393G>T , CM000664.2:g.178569393G>T | GRCh38 |
| NC_000002.11:g.179434120G>T , CM000664.1:g.179434120G>T | GRCh37 |
| NC_000002.10:g.179142366G>T | NCBI36 |
| NG_011618.3:g.266410C>A , LRG_391:g.266410C>A | |
| NG_051363.1:g.51567G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69035C>A (TTN) | ENSP00000343764.6:p.Thr23012Lys | |
| ENST00000342175.11:c.50120C>A (TTN) | ENSP00000340554.6:p.Thr16707Lys | |
| ENST00000359218.10:c.49919C>A (TTN) | ENSP00000352154.5:p.Thr16640Lys | |
| ENST00000342175.10:c.50120C>A (TTN) | ENSP00000340554.6:p.Thr16707Lys | |
| ENST00000342992.10:c.69035C>A (TTN) | ENSP00000343764.6:p.Thr23012Lys | |
| ENST00000359218.9:c.49919C>A (TTN) | ENSP00000352154.5:p.Thr16640Lys | |
| ENST00000460472.6:c.49544C>A (TTN) | ENSP00000434586.1:p.Thr16515Lys | |
| ENST00000589042.5:c.76739C>A (TTN) MANE Select | ENSP00000467141.1:p.Thr25580Lys | |
| ENST00000591111.5:c.71816C>A (TTN) | ENSP00000465570.1:p.Thr23939Lys | |
| ENST00000615779.4:c.71816C>A (TTN) | ENSP00000483597.1:p.Thr23939Lys | |
| NM_001256850.1:c.71816C>A (TTN) | NP_001243779.1:p.Thr23939Lys | |
| NM_001267550.2:c.76739C>A (TTN) MANE Select | NP_001254479.2:p.Thr25580Lys | |
| NM_003319.4:c.49544C>A (TTN) | NP_003310.4:p.Thr16515Lys | |
| NM_133378.4:c.69035C>A (TTN) | NP_596869.4:p.Thr23012Lys | |
| NM_133432.3:c.49919C>A (TTN) | NP_597676.3:p.Thr16640Lys | |
| NM_133437.4:c.50120C>A (TTN) | NP_597681.4:p.Thr16707Lys | |
| NR_038271.1:n.447-1907G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-13179G>T (TTN-AS1) | ||
| XM_011511729.1:c.75836C>A (TTN) | XP_011510031.1:p.Thr25279Lys | |
| XM_011511730.1:c.49730C>A (TTN) | XP_011510032.1:p.Thr16577Lys | |
| XM_011511731.1:c.49589C>A (TTN) | XP_011510033.1:p.Thr16530Lys | |
| XM_017004819.1:c.75632C>A (TTN) | XP_016860308.1:p.Thr25211Lys | |
| XM_017004820.1:c.71030C>A (TTN) | XP_016860309.1:p.Thr23677Lys | |
| XM_017004821.1:c.71027C>A (TTN) | XP_016860310.1:p.Thr23676Lys | |
| XM_017004822.1:c.68069C>A (TTN) | XP_016860311.1:p.Thr22690Lys | |
| XM_017004823.1:c.49685C>A (TTN) | XP_016860312.1:p.Thr16562Lys | |
| XM_024453094.1:c.71180C>A (TTN) | XP_024308862.1:p.Thr23727Lys | |
| XM_024453095.1:c.71177C>A (TTN) | XP_024308863.1:p.Thr23726Lys | |
| XM_024453096.1:c.70610C>A (TTN) | XP_024308864.1:p.Thr23537Lys | |
| XM_024453097.1:c.67952C>A (TTN) | XP_024308865.1:p.Thr22651Lys | |
| XM_024453098.1:c.67871C>A (TTN) | XP_024308866.1:p.Thr22624Lys | |
| XM_024453099.1:c.49634C>A (TTN) | XP_024308867.1:p.Thr16545Lys | |
| XM_024453100.1:c.39488C>A (TTN) | XP_024308868.1:p.Thr13163Lys |