Linked Data
ClinVar Variation Id:
263752
dbSNP Id:
rs370450339
ExAC:
2:179473421 T / C
gnomAD v2:
2-179473421-T-C
gnomAD v3:
2-178608694-T-C
gnomAD v4:
2-178608694-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608694T>C , CM000664.2:g.178608694T>C | GRCh38 |
| NC_000002.11:g.179473421T>C , CM000664.1:g.179473421T>C | GRCh37 |
| NC_000002.10:g.179181666T>C | NCBI36 |
| NG_011618.3:g.227109A>G , LRG_391:g.227109A>G | |
| NG_051363.1:g.90868T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44613A>G (TTN) | ENSP00000343764.6:p.Lys14871= | |
| ENST00000342175.11:c.25698A>G (TTN) | ENSP00000340554.6:p.Lys8566= | |
| ENST00000359218.10:c.25497A>G (TTN) | ENSP00000352154.5:p.Lys8499= | |
| ENST00000342175.10:c.25698A>G (TTN) | ENSP00000340554.6:p.Lys8566= | |
| ENST00000342992.10:c.44613A>G (TTN) | ENSP00000343764.6:p.Lys14871= | |
| ENST00000359218.9:c.25497A>G (TTN) | ENSP00000352154.5:p.Lys8499= | |
| ENST00000460472.6:c.25122A>G (TTN) | ENSP00000434586.1:p.Lys8374= | |
| ENST00000589042.5:c.52317A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys17439= | |
| ENST00000591111.5:c.47394A>G (TTN) | ENSP00000465570.1:p.Lys15798= | |
| ENST00000615779.4:c.47394A>G (TTN) | ENSP00000483597.1:p.Lys15798= | |
| NM_001256850.1:c.47394A>G (TTN) | NP_001243779.1:p.Lys15798= | |
| NM_001267550.2:c.52317A>G (TTN) MANE Select | NP_001254479.2:p.Lys17439= | |
| NM_003319.4:c.25122A>G (TTN) | NP_003310.4:p.Lys8374= | |
| NM_133378.4:c.44613A>G (TTN) | NP_596869.4:p.Lys14871= | |
| NM_133432.3:c.25497A>G (TTN) | NP_597676.3:p.Lys8499= | |
| NM_133437.4:c.25698A>G (TTN) | NP_597681.4:p.Lys8566= | |
| NR_038271.1:n.782+428T>C (TTN-AS1) | ||
| XM_011511729.1:c.51414A>G (TTN) | XP_011510031.1:p.Lys17138= | |
| XM_011511730.1:c.25308A>G (TTN) | XP_011510032.1:p.Lys8436= | |
| XM_011511731.1:c.25167A>G (TTN) | XP_011510033.1:p.Lys8389= | |
| XM_017004819.1:c.51210A>G (TTN) | XP_016860308.1:p.Lys17070= | |
| XM_017004820.1:c.46608A>G (TTN) | XP_016860309.1:p.Lys15536= | |
| XM_017004821.1:c.46605A>G (TTN) | XP_016860310.1:p.Lys15535= | |
| XM_017004822.1:c.43647A>G (TTN) | XP_016860311.1:p.Lys14549= | |
| XM_017004823.1:c.25263A>G (TTN) | XP_016860312.1:p.Lys8421= | |
| XM_024453094.1:c.46758A>G (TTN) | XP_024308862.1:p.Lys15586= | |
| XM_024453095.1:c.46755A>G (TTN) | XP_024308863.1:p.Lys15585= | |
| XM_024453096.1:c.46188A>G (TTN) | XP_024308864.1:p.Lys15396= | |
| XM_024453097.1:c.43530A>G (TTN) | XP_024308865.1:p.Lys14510= | |
| XM_024453098.1:c.43449A>G (TTN) | XP_024308866.1:p.Lys14483= | |
| XM_024453099.1:c.25212A>G (TTN) | XP_024308867.1:p.Lys8404= | |
| XM_024453100.1:c.15066A>G (TTN) | XP_024308868.1:p.Lys5022= |