Linked Data
ClinVar Variation Id:
178206
dbSNP Id:
rs369979598
ExAC:
2:179482989 C / G
gnomAD v2:
2-179482989-C-G
gnomAD v3:
2-178618262-C-G
gnomAD v4:
2-178618262-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618262C>G , CM000664.2:g.178618262C>G | GRCh38 |
| NC_000002.11:g.179482989C>G , CM000664.1:g.179482989C>G | GRCh37 |
| NC_000002.10:g.179191234C>G | NCBI36 |
| NG_011618.3:g.217541G>C , LRG_391:g.217541G>C | |
| NG_051363.1:g.100436C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.39492G>C (TTN) | ENSP00000343764.6:p.Val13164= | |
| ENST00000342175.11:c.20577G>C (TTN) | ENSP00000340554.6:p.Val6859= | |
| ENST00000359218.10:c.20376G>C (TTN) | ENSP00000352154.5:p.Val6792= | |
| ENST00000342175.10:c.20577G>C (TTN) | ENSP00000340554.6:p.Val6859= | |
| ENST00000342992.10:c.39492G>C (TTN) | ENSP00000343764.6:p.Val13164= | |
| ENST00000359218.9:c.20376G>C (TTN) | ENSP00000352154.5:p.Val6792= | |
| ENST00000460472.6:c.20001G>C (TTN) | ENSP00000434586.1:p.Val6667= | |
| ENST00000589042.5:c.47196G>C (TTN) MANE Select | ENSP00000467141.1:p.Val15732= | |
| ENST00000591111.5:c.42273G>C (TTN) | ENSP00000465570.1:p.Val14091= | |
| ENST00000615779.4:c.42273G>C (TTN) | ENSP00000483597.1:p.Val14091= | |
| NM_001256850.1:c.42273G>C (TTN) | NP_001243779.1:p.Val14091= | |
| NM_001267550.2:c.47196G>C (TTN) MANE Select | NP_001254479.2:p.Val15732= | |
| NM_003319.4:c.20001G>C (TTN) | NP_003310.4:p.Val6667= | |
| NM_133378.4:c.39492G>C (TTN) | NP_596869.4:p.Val13164= | |
| NM_133432.3:c.20376G>C (TTN) | NP_597676.3:p.Val6792= | |
| NM_133437.4:c.20577G>C (TTN) | NP_597681.4:p.Val6859= | |
| NR_038271.1:n.1605-1491C>G (TTN-AS1) | ||
| XM_011511729.1:c.46293G>C (TTN) | XP_011510031.1:p.Val15431= | |
| XM_011511730.1:c.20187G>C (TTN) | XP_011510032.1:p.Val6729= | |
| XM_011511731.1:c.20046G>C (TTN) | XP_011510033.1:p.Val6682= | |
| XM_017004819.1:c.46089G>C (TTN) | XP_016860308.1:p.Val15363= | |
| XM_017004820.1:c.41487G>C (TTN) | XP_016860309.1:p.Val13829= | |
| XM_017004821.1:c.41484G>C (TTN) | XP_016860310.1:p.Val13828= | |
| XM_017004822.1:c.38526G>C (TTN) | XP_016860311.1:p.Val12842= | |
| XM_017004823.1:c.20142G>C (TTN) | XP_016860312.1:p.Val6714= | |
| XM_024453094.1:c.41637G>C (TTN) | XP_024308862.1:p.Val13879= | |
| XM_024453095.1:c.41634G>C (TTN) | XP_024308863.1:p.Val13878= | |
| XM_024453096.1:c.41067G>C (TTN) | XP_024308864.1:p.Val13689= | |
| XM_024453097.1:c.38409G>C (TTN) | XP_024308865.1:p.Val12803= | |
| XM_024453098.1:c.38328G>C (TTN) | XP_024308866.1:p.Val12776= | |
| XM_024453099.1:c.20091G>C (TTN) | XP_024308867.1:p.Val6697= | |
| XM_024453100.1:c.9945G>C (TTN) | XP_024308868.1:p.Val3315= |