Linked Data
ClinVar Variation Id:
504539
dbSNP Id:
rs368439674
ExAC:
2:179421758 G / A
gnomAD v2:
2-179421758-G-A
gnomAD v3:
2-178557031-G-A
gnomAD v4:
2-178557031-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557031G>A , CM000664.2:g.178557031G>A | GRCh38 |
| NC_000002.11:g.179421758G>A , CM000664.1:g.179421758G>A | GRCh37 |
| NC_000002.10:g.179130004G>A | NCBI36 |
| NG_011618.3:g.278772C>T , LRG_391:g.278772C>T | |
| NG_051363.1:g.39205G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.80419C>T (TTN) | ENSP00000343764.6:p.Arg26807Cys | |
| ENST00000342175.11:c.61504C>T (TTN) | ENSP00000340554.6:p.Arg20502Cys | |
| ENST00000359218.10:c.61303C>T (TTN) | ENSP00000352154.5:p.Arg20435Cys | |
| ENST00000342175.10:c.61504C>T (TTN) | ENSP00000340554.6:p.Arg20502Cys | |
| ENST00000342992.10:c.80419C>T (TTN) | ENSP00000343764.6:p.Arg26807Cys | |
| ENST00000359218.9:c.61303C>T (TTN) | ENSP00000352154.5:p.Arg20435Cys | |
| ENST00000460472.6:c.60928C>T (TTN) | ENSP00000434586.1:p.Arg20310Cys | |
| ENST00000589042.5:c.88123C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg29375Cys | |
| ENST00000591111.5:c.83200C>T (TTN) | ENSP00000465570.1:p.Arg27734Cys | |
| ENST00000615779.4:c.83200C>T (TTN) | ENSP00000483597.1:p.Arg27734Cys | |
| NM_001256850.1:c.83200C>T (TTN) | NP_001243779.1:p.Arg27734Cys | |
| NM_001267550.2:c.88123C>T (TTN) MANE Select | NP_001254479.2:p.Arg29375Cys | |
| NM_003319.4:c.60928C>T (TTN) | NP_003310.4:p.Arg20310Cys | |
| NM_133378.4:c.80419C>T (TTN) | NP_596869.4:p.Arg26807Cys | |
| NM_133432.3:c.61303C>T (TTN) | NP_597676.3:p.Arg20435Cys | |
| NM_133437.4:c.61504C>T (TTN) | NP_597681.4:p.Arg20502Cys | |
| NR_038271.1:n.447-14269G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+14670G>A (TTN-AS1) | ||
| XM_011511729.1:c.87220C>T (TTN) | XP_011510031.1:p.Arg29074Cys | |
| XM_011511730.1:c.61114C>T (TTN) | XP_011510032.1:p.Arg20372Cys | |
| XM_011511731.1:c.60973C>T (TTN) | XP_011510033.1:p.Arg20325Cys | |
| XM_017004819.1:c.87016C>T (TTN) | XP_016860308.1:p.Arg29006Cys | |
| XM_017004820.1:c.82414C>T (TTN) | XP_016860309.1:p.Arg27472Cys | |
| XM_017004821.1:c.82411C>T (TTN) | XP_016860310.1:p.Arg27471Cys | |
| XM_017004822.1:c.79453C>T (TTN) | XP_016860311.1:p.Arg26485Cys | |
| XM_017004823.1:c.61069C>T (TTN) | XP_016860312.1:p.Arg20357Cys | |
| XM_024453094.1:c.82564C>T (TTN) | XP_024308862.1:p.Arg27522Cys | |
| XM_024453095.1:c.82561C>T (TTN) | XP_024308863.1:p.Arg27521Cys | |
| XM_024453096.1:c.81994C>T (TTN) | XP_024308864.1:p.Arg27332Cys | |
| XM_024453097.1:c.79336C>T (TTN) | XP_024308865.1:p.Arg26446Cys | |
| XM_024453098.1:c.79255C>T (TTN) | XP_024308866.1:p.Arg26419Cys | |
| XM_024453099.1:c.61018C>T (TTN) | XP_024308867.1:p.Arg20340Cys | |
| XM_024453100.1:c.50872C>T (TTN) | XP_024308868.1:p.Arg16958Cys |