Linked Data
ClinVar Variation Id:
137806
ClinVar RCV Id:
RCV000152234
RCV000226852
RCV000252710
RCV000769958
RCV001080234
RCV001135371
RCV001135373
RCV001135372
RCV001135374
RCV001135370
RCV004532510
dbSNP Id:
rs72646886
ExAC:
2:179441148 G / C
gnomAD v2:
2-179441148-G-C
gnomAD v3:
2-178576421-G-C
gnomAD v4:
2-178576421-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576421G>C , CM000664.2:g.178576421G>C | GRCh38 |
| NC_000002.11:g.179441148G>C , CM000664.1:g.179441148G>C | GRCh37 |
| NC_000002.10:g.179149394G>C | NCBI36 |
| NG_011618.3:g.259382C>G , LRG_391:g.259382C>G | |
| NG_051363.1:g.58595G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62012-5C>G (TTN) | ENSP00000343764.6:n.62012-5C>G | |
| ENST00000342175.11:c.43097-5C>G (TTN) | ENSP00000340554.6:n.43097-5C>G | |
| ENST00000359218.10:c.42896-5C>G (TTN) | ENSP00000352154.5:n.42896-5C>G | |
| ENST00000342175.10:c.43097-5C>G (TTN) | ENSP00000340554.6:n.43097-5C>G | |
| ENST00000342992.10:c.62012-5C>G (TTN) | ENSP00000343764.6:n.62012-5C>G | |
| ENST00000359218.9:c.42896-5C>G (TTN) | ENSP00000352154.5:n.42896-5C>G | |
| ENST00000460472.6:c.42521-5C>G (TTN) | ENSP00000434586.1:n.42521-5C>G | |
| ENST00000589042.5:c.69716-5C>G (TTN) MANE Select | ENSP00000467141.1:n.69716-5C>G | |
| ENST00000591111.5:c.64793-5C>G (TTN) | ENSP00000465570.1:n.64793-5C>G | |
| ENST00000615779.4:c.64793-5C>G (TTN) | ENSP00000483597.1:n.64793-5C>G | |
| NM_001256850.1:c.64793-5C>G (TTN) | NP_001243779.1:n.64793-5C>G | |
| NM_001267550.2:c.69716-5C>G (TTN) MANE Select | NP_001254479.2:n.69716-5C>G | |
| NM_003319.4:c.42521-5C>G (TTN) | NP_003310.4:n.42521-5C>G | |
| NM_133378.4:c.62012-5C>G (TTN) | NP_596869.4:n.62012-5C>G | |
| NM_133432.3:c.42896-5C>G (TTN) | NP_597676.3:n.42896-5C>G | |
| NM_133437.4:c.43097-5C>G (TTN) | NP_597681.4:n.43097-5C>G | |
| NR_038271.1:n.596+4972G>C (TTN-AS1) | ||
| NR_038272.1:n.2044-6151G>C (TTN-AS1) | ||
| XM_011511729.1:c.68813-5C>G (TTN) | XP_011510031.1:n.68813-5C>G | |
| XM_011511730.1:c.42707-5C>G (TTN) | XP_011510032.1:n.42707-5C>G | |
| XM_011511731.1:c.42566-5C>G (TTN) | XP_011510033.1:n.42566-5C>G | |
| XM_017004819.1:c.68609-5C>G (TTN) | XP_016860308.1:n.68609-5C>G | |
| XM_017004820.1:c.64007-5C>G (TTN) | XP_016860309.1:n.64007-5C>G | |
| XM_017004821.1:c.64004-5C>G (TTN) | XP_016860310.1:n.64004-5C>G | |
| XM_017004822.1:c.61046-5C>G (TTN) | XP_016860311.1:n.61046-5C>G | |
| XM_017004823.1:c.42662-5C>G (TTN) | XP_016860312.1:n.42662-5C>G | |
| XM_024453094.1:c.64157-5C>G (TTN) | XP_024308862.1:n.64157-5C>G | |
| XM_024453095.1:c.64154-5C>G (TTN) | XP_024308863.1:n.64154-5C>G | |
| XM_024453096.1:c.63587-5C>G (TTN) | XP_024308864.1:n.63587-5C>G | |
| XM_024453097.1:c.60929-5C>G (TTN) | XP_024308865.1:n.60929-5C>G | |
| XM_024453098.1:c.60848-5C>G (TTN) | XP_024308866.1:n.60848-5C>G | |
| XM_024453099.1:c.42611-5C>G (TTN) | XP_024308867.1:n.42611-5C>G | |
| XM_024453100.1:c.32465-5C>G (TTN) | XP_024308868.1:n.32465-5C>G |