Linked Data
ClinVar Variation Id:
229467
dbSNP Id:
rs377000174
ExAC:
2:179463490 C / T
gnomAD v2:
2-179463490-C-T
gnomAD v3:
2-178598763-C-T
gnomAD v4:
2-178598763-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178598763C>T , CM000664.2:g.178598763C>T | GRCh38 |
| NC_000002.11:g.179463490C>T , CM000664.1:g.179463490C>T | GRCh37 |
| NC_000002.10:g.179171735C>T | NCBI36 |
| NG_011618.3:g.237040G>A , LRG_391:g.237040G>A | |
| NG_051363.1:g.80937C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49243G>A (TTN) | ENSP00000343764.6:p.Ala16415Thr | |
| ENST00000342175.11:c.30328G>A (TTN) | ENSP00000340554.6:p.Ala10110Thr | |
| ENST00000359218.10:c.30127G>A (TTN) | ENSP00000352154.5:p.Ala10043Thr | |
| ENST00000342175.10:c.30328G>A (TTN) | ENSP00000340554.6:p.Ala10110Thr | |
| ENST00000342992.10:c.49243G>A (TTN) | ENSP00000343764.6:p.Ala16415Thr | |
| ENST00000359218.9:c.30127G>A (TTN) | ENSP00000352154.5:p.Ala10043Thr | |
| ENST00000460472.6:c.29752G>A (TTN) | ENSP00000434586.1:p.Ala9918Thr | |
| ENST00000589042.5:c.56947G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala18983Thr | |
| ENST00000591111.5:c.52024G>A (TTN) | ENSP00000465570.1:p.Ala17342Thr | |
| ENST00000615779.4:c.52024G>A (TTN) | ENSP00000483597.1:p.Ala17342Thr | |
| NM_001256850.1:c.52024G>A (TTN) | NP_001243779.1:p.Ala17342Thr | |
| NM_001267550.2:c.56947G>A (TTN) MANE Select | NP_001254479.2:p.Ala18983Thr | |
| NM_003319.4:c.29752G>A (TTN) | NP_003310.4:p.Ala9918Thr | |
| NM_133378.4:c.49243G>A (TTN) | NP_596869.4:p.Ala16415Thr | |
| NM_133432.3:c.30127G>A (TTN) | NP_597676.3:p.Ala10043Thr | |
| NM_133437.4:c.30328G>A (TTN) | NP_597681.4:p.Ala10110Thr | |
| NR_038271.1:n.682+1082C>T (TTN-AS1) | ||
| NR_038272.1:n.3568+90C>T (TTN-AS1) | ||
| XM_011511729.1:c.56044G>A (TTN) | XP_011510031.1:p.Ala18682Thr | |
| XM_011511730.1:c.29938G>A (TTN) | XP_011510032.1:p.Ala9980Thr | |
| XM_011511731.1:c.29797G>A (TTN) | XP_011510033.1:p.Ala9933Thr | |
| XM_017004819.1:c.55840G>A (TTN) | XP_016860308.1:p.Ala18614Thr | |
| XM_017004820.1:c.51238G>A (TTN) | XP_016860309.1:p.Ala17080Thr | |
| XM_017004821.1:c.51235G>A (TTN) | XP_016860310.1:p.Ala17079Thr | |
| XM_017004822.1:c.48277G>A (TTN) | XP_016860311.1:p.Ala16093Thr | |
| XM_017004823.1:c.29893G>A (TTN) | XP_016860312.1:p.Ala9965Thr | |
| XM_024453094.1:c.51388G>A (TTN) | XP_024308862.1:p.Ala17130Thr | |
| XM_024453095.1:c.51385G>A (TTN) | XP_024308863.1:p.Ala17129Thr | |
| XM_024453096.1:c.50818G>A (TTN) | XP_024308864.1:p.Ala16940Thr | |
| XM_024453097.1:c.48160G>A (TTN) | XP_024308865.1:p.Ala16054Thr | |
| XM_024453098.1:c.48079G>A (TTN) | XP_024308866.1:p.Ala16027Thr | |
| XM_024453099.1:c.29842G>A (TTN) | XP_024308867.1:p.Ala9948Thr | |
| XM_024453100.1:c.19696G>A (TTN) | XP_024308868.1:p.Ala6566Thr |