Linked Data
ClinVar Variation Id:
513448
ClinVar RCV Id:
RCV000614303
RCV000643213
RCV001129288
RCV001129290
RCV001129289
RCV001129286
RCV001129287
RCV001698079
dbSNP Id:
rs750362675
ExAC:
2:179422481 C / G
gnomAD v2:
2-179422481-C-G
gnomAD v3:
2-178557754-C-G
gnomAD v4:
2-178557754-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557754C>G , CM000664.2:g.178557754C>G | GRCh38 |
| NC_000002.11:g.179422481C>G , CM000664.1:g.179422481C>G | GRCh37 |
| NC_000002.10:g.179130727C>G | NCBI36 |
| NG_011618.3:g.278049G>C , LRG_391:g.278049G>C | |
| NG_051363.1:g.39928C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79896G>C (TTN) | ENSP00000343764.6:p.Met26632Ile | |
| ENST00000342175.11:c.60981G>C (TTN) | ENSP00000340554.6:p.Met20327Ile | |
| ENST00000359218.10:c.60780G>C (TTN) | ENSP00000352154.5:p.Met20260Ile | |
| ENST00000342175.10:c.60981G>C (TTN) | ENSP00000340554.6:p.Met20327Ile | |
| ENST00000342992.10:c.79896G>C (TTN) | ENSP00000343764.6:p.Met26632Ile | |
| ENST00000359218.9:c.60780G>C (TTN) | ENSP00000352154.5:p.Met20260Ile | |
| ENST00000460472.6:c.60405G>C (TTN) | ENSP00000434586.1:p.Met20135Ile | |
| ENST00000589042.5:c.87600G>C (TTN) MANE Select | ENSP00000467141.1:p.Met29200Ile | |
| ENST00000591111.5:c.82677G>C (TTN) | ENSP00000465570.1:p.Met27559Ile | |
| ENST00000615779.4:c.82677G>C (TTN) | ENSP00000483597.1:p.Met27559Ile | |
| NM_001256850.1:c.82677G>C (TTN) | NP_001243779.1:p.Met27559Ile | |
| NM_001267550.2:c.87600G>C (TTN) MANE Select | NP_001254479.2:p.Met29200Ile | |
| NM_003319.4:c.60405G>C (TTN) | NP_003310.4:p.Met20135Ile | |
| NM_133378.4:c.79896G>C (TTN) | NP_596869.4:p.Met26632Ile | |
| NM_133432.3:c.60780G>C (TTN) | NP_597676.3:p.Met20260Ile | |
| NM_133437.4:c.60981G>C (TTN) | NP_597681.4:p.Met20327Ile | |
| NR_038271.1:n.447-13546C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+15393C>G (TTN-AS1) | ||
| XM_011511729.1:c.86697G>C (TTN) | XP_011510031.1:p.Met28899Ile | |
| XM_011511730.1:c.60591G>C (TTN) | XP_011510032.1:p.Met20197Ile | |
| XM_011511731.1:c.60450G>C (TTN) | XP_011510033.1:p.Met20150Ile | |
| XM_017004819.1:c.86493G>C (TTN) | XP_016860308.1:p.Met28831Ile | |
| XM_017004820.1:c.81891G>C (TTN) | XP_016860309.1:p.Met27297Ile | |
| XM_017004821.1:c.81888G>C (TTN) | XP_016860310.1:p.Met27296Ile | |
| XM_017004822.1:c.78930G>C (TTN) | XP_016860311.1:p.Met26310Ile | |
| XM_017004823.1:c.60546G>C (TTN) | XP_016860312.1:p.Met20182Ile | |
| XM_024453094.1:c.82041G>C (TTN) | XP_024308862.1:p.Met27347Ile | |
| XM_024453095.1:c.82038G>C (TTN) | XP_024308863.1:p.Met27346Ile | |
| XM_024453096.1:c.81471G>C (TTN) | XP_024308864.1:p.Met27157Ile | |
| XM_024453097.1:c.78813G>C (TTN) | XP_024308865.1:p.Met26271Ile | |
| XM_024453098.1:c.78732G>C (TTN) | XP_024308866.1:p.Met26244Ile | |
| XM_024453099.1:c.60495G>C (TTN) | XP_024308867.1:p.Met20165Ile | |
| XM_024453100.1:c.50349G>C (TTN) | XP_024308868.1:p.Met16783Ile |