Linked Data
ClinVar Variation Id:
47720
ClinVar RCV Id:
RCV000040989
RCV000082477
RCV000241675
RCV001079456
RCV001128833
RCV000986935
RCV001135821
RCV001135822
RCV001171215
RCV001135823
RCV001293191
RCV004537124
dbSNP Id:
rs72629793
ExAC:
2:179392277 A / G
gnomAD v2:
2-179392277-A-G
gnomAD v3:
2-178527550-A-G
gnomAD v4:
2-178527550-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527550A>G , CM000664.2:g.178527550A>G | GRCh38 |
| NC_000002.11:g.179392277A>G , CM000664.1:g.179392277A>G | GRCh37 |
| NC_000002.10:g.179100523A>G | NCBI36 |
| NG_011618.3:g.308253T>C , LRG_391:g.308253T>C | |
| NG_051363.1:g.9724A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99872T>C (TTN) | ENSP00000343764.6:p.Met33291Thr | |
| ENST00000342175.11:c.80957T>C (TTN) | ENSP00000340554.6:p.Met26986Thr | |
| ENST00000359218.10:c.80756T>C (TTN) | ENSP00000352154.5:p.Met26919Thr | |
| ENST00000342175.10:c.80957T>C (TTN) | ENSP00000340554.6:p.Met26986Thr | |
| ENST00000342992.10:c.99872T>C (TTN) | ENSP00000343764.6:p.Met33291Thr | |
| ENST00000359218.9:c.80756T>C (TTN) | ENSP00000352154.5:p.Met26919Thr | |
| ENST00000460472.6:c.80381T>C (TTN) | ENSP00000434586.1:p.Met26794Thr | |
| ENST00000589042.5:c.107576T>C (TTN) MANE Select | ENSP00000467141.1:p.Met35859Thr | |
| ENST00000591111.5:c.102653T>C (TTN) | ENSP00000465570.1:p.Met34218Thr | |
| ENST00000615779.4:c.102653T>C (TTN) | ENSP00000483597.1:p.Met34218Thr | |
| NM_001256850.1:c.102653T>C (TTN) | NP_001243779.1:p.Met34218Thr | |
| NM_001267550.2:c.107576T>C (TTN) MANE Select | NP_001254479.2:p.Met35859Thr | |
| NM_003319.4:c.80381T>C (TTN) | NP_003310.4:p.Met26794Thr | |
| NM_133378.4:c.99872T>C (TTN) | NP_596869.4:p.Met33291Thr | |
| NM_133432.3:c.80756T>C (TTN) | NP_597676.3:p.Met26919Thr | |
| NM_133437.4:c.80957T>C (TTN) | NP_597681.4:p.Met26986Thr | |
| NR_038271.1:n.446+3914A>G (TTN-AS1) | ||
| NR_038272.1:n.219+3914A>G (TTN-AS1) | ||
| XM_011511729.1:c.106673T>C (TTN) | XP_011510031.1:p.Met35558Thr | |
| XM_011511730.1:c.80567T>C (TTN) | XP_011510032.1:p.Met26856Thr | |
| XM_011511731.1:c.80426T>C (TTN) | XP_011510033.1:p.Met26809Thr | |
| XM_017004819.1:c.106469T>C (TTN) | XP_016860308.1:p.Met35490Thr | |
| XM_017004820.1:c.101867T>C (TTN) | XP_016860309.1:p.Met33956Thr | |
| XM_017004821.1:c.101864T>C (TTN) | XP_016860310.1:p.Met33955Thr | |
| XM_017004822.1:c.98906T>C (TTN) | XP_016860311.1:p.Met32969Thr | |
| XM_017004823.1:c.80522T>C (TTN) | XP_016860312.1:p.Met26841Thr | |
| XM_024453094.1:c.102017T>C (TTN) | XP_024308862.1:p.Met34006Thr | |
| XM_024453095.1:c.102014T>C (TTN) | XP_024308863.1:p.Met34005Thr | |
| XM_024453096.1:c.101447T>C (TTN) | XP_024308864.1:p.Met33816Thr | |
| XM_024453097.1:c.98789T>C (TTN) | XP_024308865.1:p.Met32930Thr | |
| XM_024453098.1:c.98708T>C (TTN) | XP_024308866.1:p.Met32903Thr | |
| XM_024453099.1:c.80471T>C (TTN) | XP_024308867.1:p.Met26824Thr | |
| XM_024453100.1:c.70325T>C (TTN) | XP_024308868.1:p.Met23442Thr |