Linked Data
ClinVar Variation Id:
332782
dbSNP Id:
rs748412838
ExAC:
2:179435701 C / G
gnomAD v2:
2-179435701-C-G
gnomAD v3:
2-178570974-C-G
gnomAD v4:
2-178570974-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570974C>G , CM000664.2:g.178570974C>G | GRCh38 |
| NC_000002.11:g.179435701C>G , CM000664.1:g.179435701C>G | GRCh37 |
| NC_000002.10:g.179143947C>G | NCBI36 |
| NG_011618.3:g.264829G>C , LRG_391:g.264829G>C | |
| NG_051363.1:g.53148C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67454G>C (TTN) | ENSP00000343764.6:p.Trp22485Ser | |
| ENST00000342175.11:c.48539G>C (TTN) | ENSP00000340554.6:p.Trp16180Ser | |
| ENST00000359218.10:c.48338G>C (TTN) | ENSP00000352154.5:p.Trp16113Ser | |
| ENST00000342175.10:c.48539G>C (TTN) | ENSP00000340554.6:p.Trp16180Ser | |
| ENST00000342992.10:c.67454G>C (TTN) | ENSP00000343764.6:p.Trp22485Ser | |
| ENST00000359218.9:c.48338G>C (TTN) | ENSP00000352154.5:p.Trp16113Ser | |
| ENST00000460472.6:c.47963G>C (TTN) | ENSP00000434586.1:p.Trp15988Ser | |
| ENST00000589042.5:c.75158G>C (TTN) MANE Select | ENSP00000467141.1:p.Trp25053Ser | |
| ENST00000591111.5:c.70235G>C (TTN) | ENSP00000465570.1:p.Trp23412Ser | |
| ENST00000615779.4:c.70235G>C (TTN) | ENSP00000483597.1:p.Trp23412Ser | |
| NM_001256850.1:c.70235G>C (TTN) | NP_001243779.1:p.Trp23412Ser | |
| NM_001267550.2:c.75158G>C (TTN) MANE Select | NP_001254479.2:p.Trp25053Ser | |
| NM_003319.4:c.47963G>C (TTN) | NP_003310.4:p.Trp15988Ser | |
| NM_133378.4:c.67454G>C (TTN) | NP_596869.4:p.Trp22485Ser | |
| NM_133432.3:c.48338G>C (TTN) | NP_597676.3:p.Trp16113Ser | |
| NM_133437.4:c.48539G>C (TTN) | NP_597681.4:p.Trp16180Ser | |
| NR_038271.1:n.447-326C>G (TTN-AS1) | ||
| NR_038272.1:n.2044-11598C>G (TTN-AS1) | ||
| XM_011511729.1:c.74255G>C (TTN) | XP_011510031.1:p.Trp24752Ser | |
| XM_011511730.1:c.48149G>C (TTN) | XP_011510032.1:p.Trp16050Ser | |
| XM_011511731.1:c.48008G>C (TTN) | XP_011510033.1:p.Trp16003Ser | |
| XM_017004819.1:c.74051G>C (TTN) | XP_016860308.1:p.Trp24684Ser | |
| XM_017004820.1:c.69449G>C (TTN) | XP_016860309.1:p.Trp23150Ser | |
| XM_017004821.1:c.69446G>C (TTN) | XP_016860310.1:p.Trp23149Ser | |
| XM_017004822.1:c.66488G>C (TTN) | XP_016860311.1:p.Trp22163Ser | |
| XM_017004823.1:c.48104G>C (TTN) | XP_016860312.1:p.Trp16035Ser | |
| XM_024453094.1:c.69599G>C (TTN) | XP_024308862.1:p.Trp23200Ser | |
| XM_024453095.1:c.69596G>C (TTN) | XP_024308863.1:p.Trp23199Ser | |
| XM_024453096.1:c.69029G>C (TTN) | XP_024308864.1:p.Trp23010Ser | |
| XM_024453097.1:c.66371G>C (TTN) | XP_024308865.1:p.Trp22124Ser | |
| XM_024453098.1:c.66290G>C (TTN) | XP_024308866.1:p.Trp22097Ser | |
| XM_024453099.1:c.48053G>C (TTN) | XP_024308867.1:p.Trp16018Ser | |
| XM_024453100.1:c.37907G>C (TTN) | XP_024308868.1:p.Trp12636Ser |