Linked Data
ClinVar Variation Id:
196058
dbSNP Id:
rs760509116
ExAC:
2:179440424 G / A
gnomAD v2:
2-179440424-G-A
gnomAD v3:
2-178575697-G-A
gnomAD v4:
2-178575697-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178575697G>A , CM000664.2:g.178575697G>A | GRCh38 |
| NC_000002.11:g.179440424G>A , CM000664.1:g.179440424G>A | GRCh37 |
| NC_000002.10:g.179148670G>A | NCBI36 |
| NG_011618.3:g.260106C>T , LRG_391:g.260106C>T | |
| NG_051363.1:g.57871G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62731C>T (TTN) | ENSP00000343764.6:p.Arg20911Trp | |
| ENST00000342175.11:c.43816C>T (TTN) | ENSP00000340554.6:p.Arg14606Trp | |
| ENST00000359218.10:c.43615C>T (TTN) | ENSP00000352154.5:p.Arg14539Trp | |
| ENST00000342175.10:c.43816C>T (TTN) | ENSP00000340554.6:p.Arg14606Trp | |
| ENST00000342992.10:c.62731C>T (TTN) | ENSP00000343764.6:p.Arg20911Trp | |
| ENST00000359218.9:c.43615C>T (TTN) | ENSP00000352154.5:p.Arg14539Trp | |
| ENST00000460472.6:c.43240C>T (TTN) | ENSP00000434586.1:p.Arg14414Trp | |
| ENST00000589042.5:c.70435C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg23479Trp | |
| ENST00000591111.5:c.65512C>T (TTN) | ENSP00000465570.1:p.Arg21838Trp | |
| ENST00000615779.4:c.65512C>T (TTN) | ENSP00000483597.1:p.Arg21838Trp | |
| NM_001256850.1:c.65512C>T (TTN) | NP_001243779.1:p.Arg21838Trp | |
| NM_001267550.2:c.70435C>T (TTN) MANE Select | NP_001254479.2:p.Arg23479Trp | |
| NM_003319.4:c.43240C>T (TTN) | NP_003310.4:p.Arg14414Trp | |
| NM_133378.4:c.62731C>T (TTN) | NP_596869.4:p.Arg20911Trp | |
| NM_133432.3:c.43615C>T (TTN) | NP_597676.3:p.Arg14539Trp | |
| NM_133437.4:c.43816C>T (TTN) | NP_597681.4:p.Arg14606Trp | |
| NR_038271.1:n.596+4248G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-6875G>A (TTN-AS1) | ||
| XM_011511729.1:c.69532C>T (TTN) | XP_011510031.1:p.Arg23178Trp | |
| XM_011511730.1:c.43426C>T (TTN) | XP_011510032.1:p.Arg14476Trp | |
| XM_011511731.1:c.43285C>T (TTN) | XP_011510033.1:p.Arg14429Trp | |
| XM_017004819.1:c.69328C>T (TTN) | XP_016860308.1:p.Arg23110Trp | |
| XM_017004820.1:c.64726C>T (TTN) | XP_016860309.1:p.Arg21576Trp | |
| XM_017004821.1:c.64723C>T (TTN) | XP_016860310.1:p.Arg21575Trp | |
| XM_017004822.1:c.61765C>T (TTN) | XP_016860311.1:p.Arg20589Trp | |
| XM_017004823.1:c.43381C>T (TTN) | XP_016860312.1:p.Arg14461Trp | |
| XM_024453094.1:c.64876C>T (TTN) | XP_024308862.1:p.Arg21626Trp | |
| XM_024453095.1:c.64873C>T (TTN) | XP_024308863.1:p.Arg21625Trp | |
| XM_024453096.1:c.64306C>T (TTN) | XP_024308864.1:p.Arg21436Trp | |
| XM_024453097.1:c.61648C>T (TTN) | XP_024308865.1:p.Arg20550Trp | |
| XM_024453098.1:c.61567C>T (TTN) | XP_024308866.1:p.Arg20523Trp | |
| XM_024453099.1:c.43330C>T (TTN) | XP_024308867.1:p.Arg14444Trp | |
| XM_024453100.1:c.33184C>T (TTN) | XP_024308868.1:p.Arg11062Trp |