Linked Data
ClinVar Variation Id:
467603
dbSNP Id:
rs372360369
ExAC:
2:179419673 G / A
gnomAD v2:
2-179419673-G-A
gnomAD v3:
2-178554946-G-A
gnomAD v4:
2-178554946-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554946G>A , CM000664.2:g.178554946G>A | GRCh38 |
| NC_000002.11:g.179419673G>A , CM000664.1:g.179419673G>A | GRCh37 |
| NC_000002.10:g.179127919G>A | NCBI36 |
| NG_011618.3:g.280857C>T , LRG_391:g.280857C>T | |
| NG_051363.1:g.37120G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80809C>T (TTN) | ENSP00000343764.6:p.Arg26937Cys | |
| ENST00000342175.11:c.61894C>T (TTN) | ENSP00000340554.6:p.Arg20632Cys | |
| ENST00000359218.10:c.61693C>T (TTN) | ENSP00000352154.5:p.Arg20565Cys | |
| ENST00000342175.10:c.61894C>T (TTN) | ENSP00000340554.6:p.Arg20632Cys | |
| ENST00000342992.10:c.80809C>T (TTN) | ENSP00000343764.6:p.Arg26937Cys | |
| ENST00000359218.9:c.61693C>T (TTN) | ENSP00000352154.5:p.Arg20565Cys | |
| ENST00000460472.6:c.61318C>T (TTN) | ENSP00000434586.1:p.Arg20440Cys | |
| ENST00000589042.5:c.88513C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg29505Cys | |
| ENST00000591111.5:c.83590C>T (TTN) | ENSP00000465570.1:p.Arg27864Cys | |
| ENST00000615779.4:c.83590C>T (TTN) | ENSP00000483597.1:p.Arg27864Cys | |
| NM_001256850.1:c.83590C>T (TTN) | NP_001243779.1:p.Arg27864Cys | |
| NM_001267550.2:c.88513C>T (TTN) MANE Select | NP_001254479.2:p.Arg29505Cys | |
| NM_003319.4:c.61318C>T (TTN) | NP_003310.4:p.Arg20440Cys | |
| NM_133378.4:c.80809C>T (TTN) | NP_596869.4:p.Arg26937Cys | |
| NM_133432.3:c.61693C>T (TTN) | NP_597676.3:p.Arg20565Cys | |
| NM_133437.4:c.61894C>T (TTN) | NP_597681.4:p.Arg20632Cys | |
| NR_038271.1:n.447-16354G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+12585G>A (TTN-AS1) | ||
| XM_011511729.1:c.87610C>T (TTN) | XP_011510031.1:p.Arg29204Cys | |
| XM_011511730.1:c.61504C>T (TTN) | XP_011510032.1:p.Arg20502Cys | |
| XM_011511731.1:c.61363C>T (TTN) | XP_011510033.1:p.Arg20455Cys | |
| XM_017004819.1:c.87406C>T (TTN) | XP_016860308.1:p.Arg29136Cys | |
| XM_017004820.1:c.82804C>T (TTN) | XP_016860309.1:p.Arg27602Cys | |
| XM_017004821.1:c.82801C>T (TTN) | XP_016860310.1:p.Arg27601Cys | |
| XM_017004822.1:c.79843C>T (TTN) | XP_016860311.1:p.Arg26615Cys | |
| XM_017004823.1:c.61459C>T (TTN) | XP_016860312.1:p.Arg20487Cys | |
| XM_024453094.1:c.82954C>T (TTN) | XP_024308862.1:p.Arg27652Cys | |
| XM_024453095.1:c.82951C>T (TTN) | XP_024308863.1:p.Arg27651Cys | |
| XM_024453096.1:c.82384C>T (TTN) | XP_024308864.1:p.Arg27462Cys | |
| XM_024453097.1:c.79726C>T (TTN) | XP_024308865.1:p.Arg26576Cys | |
| XM_024453098.1:c.79645C>T (TTN) | XP_024308866.1:p.Arg26549Cys | |
| XM_024453099.1:c.61408C>T (TTN) | XP_024308867.1:p.Arg20470Cys | |
| XM_024453100.1:c.51262C>T (TTN) | XP_024308868.1:p.Arg17088Cys |