Linked Data
ClinVar Variation Id:
332823
dbSNP Id:
rs757911359
ExAC:
2:179457159 G / A
gnomAD v2:
2-179457159-G-A
gnomAD v3:
2-178592432-G-A
gnomAD v4:
2-178592432-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592432G>A , CM000664.2:g.178592432G>A | GRCh38 |
| NC_000002.11:g.179457159G>A , CM000664.1:g.179457159G>A | GRCh37 |
| NC_000002.10:g.179165405G>A | NCBI36 |
| NG_011618.3:g.243371C>T , LRG_391:g.243371C>T | |
| NG_051363.1:g.74606G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51869C>T (TTN) | ENSP00000343764.6:p.Thr17290Ile | |
| ENST00000342175.11:c.32954C>T (TTN) | ENSP00000340554.6:p.Thr10985Ile | |
| ENST00000359218.10:c.32753C>T (TTN) | ENSP00000352154.5:p.Thr10918Ile | |
| ENST00000342175.10:c.32954C>T (TTN) | ENSP00000340554.6:p.Thr10985Ile | |
| ENST00000342992.10:c.51869C>T (TTN) | ENSP00000343764.6:p.Thr17290Ile | |
| ENST00000359218.9:c.32753C>T (TTN) | ENSP00000352154.5:p.Thr10918Ile | |
| ENST00000460472.6:c.32378C>T (TTN) | ENSP00000434586.1:p.Thr10793Ile | |
| ENST00000589042.5:c.59573C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr19858Ile | |
| ENST00000591111.5:c.54650C>T (TTN) | ENSP00000465570.1:p.Thr18217Ile | |
| ENST00000615779.4:c.54650C>T (TTN) | ENSP00000483597.1:p.Thr18217Ile | |
| NM_001256850.1:c.54650C>T (TTN) | NP_001243779.1:p.Thr18217Ile | |
| NM_001267550.2:c.59573C>T (TTN) MANE Select | NP_001254479.2:p.Thr19858Ile | |
| NM_003319.4:c.32378C>T (TTN) | NP_003310.4:p.Thr10793Ile | |
| NM_133378.4:c.51869C>T (TTN) | NP_596869.4:p.Thr17290Ile | |
| NM_133432.3:c.32753C>T (TTN) | NP_597676.3:p.Thr10918Ile | |
| NM_133437.4:c.32954C>T (TTN) | NP_597681.4:p.Thr10985Ile | |
| NR_038271.1:n.597-5164G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+1118G>A (TTN-AS1) | ||
| XM_011511729.1:c.58670C>T (TTN) | XP_011510031.1:p.Thr19557Ile | |
| XM_011511730.1:c.32564C>T (TTN) | XP_011510032.1:p.Thr10855Ile | |
| XM_011511731.1:c.32423C>T (TTN) | XP_011510033.1:p.Thr10808Ile | |
| XM_017004819.1:c.58466C>T (TTN) | XP_016860308.1:p.Thr19489Ile | |
| XM_017004820.1:c.53864C>T (TTN) | XP_016860309.1:p.Thr17955Ile | |
| XM_017004821.1:c.53861C>T (TTN) | XP_016860310.1:p.Thr17954Ile | |
| XM_017004822.1:c.50903C>T (TTN) | XP_016860311.1:p.Thr16968Ile | |
| XM_017004823.1:c.32519C>T (TTN) | XP_016860312.1:p.Thr10840Ile | |
| XM_024453094.1:c.54014C>T (TTN) | XP_024308862.1:p.Thr18005Ile | |
| XM_024453095.1:c.54011C>T (TTN) | XP_024308863.1:p.Thr18004Ile | |
| XM_024453096.1:c.53444C>T (TTN) | XP_024308864.1:p.Thr17815Ile | |
| XM_024453097.1:c.50786C>T (TTN) | XP_024308865.1:p.Thr16929Ile | |
| XM_024453098.1:c.50705C>T (TTN) | XP_024308866.1:p.Thr16902Ile | |
| XM_024453099.1:c.32468C>T (TTN) | XP_024308867.1:p.Thr10823Ile | |
| XM_024453100.1:c.22322C>T (TTN) | XP_024308868.1:p.Thr7441Ile |