Linked Data
ClinVar Variation Id:
404971
dbSNP Id:
rs376443365
ExAC:
2:179397514 G / A
gnomAD v2:
2-179397514-G-A
gnomAD v3:
2-178532787-G-A
gnomAD v4:
2-178532787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532787G>A , CM000664.2:g.178532787G>A | GRCh38 |
| NC_000002.11:g.179397514G>A , CM000664.1:g.179397514G>A | GRCh37 |
| NC_000002.10:g.179105760G>A | NCBI36 |
| NG_011618.3:g.303016C>T , LRG_391:g.303016C>T | |
| NG_051363.1:g.14961G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96124C>T (TTN) | ENSP00000343764.6:p.Arg32042Cys | |
| ENST00000342175.11:c.77209C>T (TTN) | ENSP00000340554.6:p.Arg25737Cys | |
| ENST00000359218.10:c.77008C>T (TTN) | ENSP00000352154.5:p.Arg25670Cys | |
| ENST00000342175.10:c.77209C>T (TTN) | ENSP00000340554.6:p.Arg25737Cys | |
| ENST00000342992.10:c.96124C>T (TTN) | ENSP00000343764.6:p.Arg32042Cys | |
| ENST00000359218.9:c.77008C>T (TTN) | ENSP00000352154.5:p.Arg25670Cys | |
| ENST00000460472.6:c.76633C>T (TTN) | ENSP00000434586.1:p.Arg25545Cys | |
| ENST00000589042.5:c.103828C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg34610Cys | |
| ENST00000591111.5:c.98905C>T (TTN) | ENSP00000465570.1:p.Arg32969Cys | |
| ENST00000615779.4:c.98905C>T (TTN) | ENSP00000483597.1:p.Arg32969Cys | |
| NM_001256850.1:c.98905C>T (TTN) | NP_001243779.1:p.Arg32969Cys | |
| NM_001267550.2:c.103828C>T (TTN) MANE Select | NP_001254479.2:p.Arg34610Cys | |
| NM_003319.4:c.76633C>T (TTN) | NP_003310.4:p.Arg25545Cys | |
| NM_133378.4:c.96124C>T (TTN) | NP_596869.4:p.Arg32042Cys | |
| NM_133432.3:c.77008C>T (TTN) | NP_597676.3:p.Arg25670Cys | |
| NM_133437.4:c.77209C>T (TTN) | NP_597681.4:p.Arg25737Cys | |
| NR_038271.1:n.446+9151G>A (TTN-AS1) | ||
| NR_038272.1:n.220-2945G>A (TTN-AS1) | ||
| XM_011511729.1:c.102925C>T (TTN) | XP_011510031.1:p.Arg34309Cys | |
| XM_011511730.1:c.76819C>T (TTN) | XP_011510032.1:p.Arg25607Cys | |
| XM_011511731.1:c.76678C>T (TTN) | XP_011510033.1:p.Arg25560Cys | |
| XM_017004819.1:c.102721C>T (TTN) | XP_016860308.1:p.Arg34241Cys | |
| XM_017004820.1:c.98119C>T (TTN) | XP_016860309.1:p.Arg32707Cys | |
| XM_017004821.1:c.98116C>T (TTN) | XP_016860310.1:p.Arg32706Cys | |
| XM_017004822.1:c.95158C>T (TTN) | XP_016860311.1:p.Arg31720Cys | |
| XM_017004823.1:c.76774C>T (TTN) | XP_016860312.1:p.Arg25592Cys | |
| XM_024453094.1:c.98269C>T (TTN) | XP_024308862.1:p.Arg32757Cys | |
| XM_024453095.1:c.98266C>T (TTN) | XP_024308863.1:p.Arg32756Cys | |
| XM_024453096.1:c.97699C>T (TTN) | XP_024308864.1:p.Arg32567Cys | |
| XM_024453097.1:c.95041C>T (TTN) | XP_024308865.1:p.Arg31681Cys | |
| XM_024453098.1:c.94960C>T (TTN) | XP_024308866.1:p.Arg31654Cys | |
| XM_024453099.1:c.76723C>T (TTN) | XP_024308867.1:p.Arg25575Cys | |
| XM_024453100.1:c.66577C>T (TTN) | XP_024308868.1:p.Arg22193Cys |