Linked Data
ClinVar Variation Id:
515425
dbSNP Id:
rs776272431
ExAC:
2:179449409 C / T
gnomAD v2:
2-179449409-C-T
gnomAD v3:
2-178584682-C-T
gnomAD v4:
2-178584682-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584682C>T , CM000664.2:g.178584682C>T | GRCh38 |
| NC_000002.11:g.179449409C>T , CM000664.1:g.179449409C>T | GRCh37 |
| NC_000002.10:g.179157655C>T | NCBI36 |
| NG_011618.3:g.251121G>A , LRG_391:g.251121G>A | |
| NG_051363.1:g.66856C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57255G>A (TTN) | ENSP00000343764.6:p.Ala19085= | |
| ENST00000342175.11:c.38340G>A (TTN) | ENSP00000340554.6:p.Ala12780= | |
| ENST00000359218.10:c.38139G>A (TTN) | ENSP00000352154.5:p.Ala12713= | |
| ENST00000342175.10:c.38340G>A (TTN) | ENSP00000340554.6:p.Ala12780= | |
| ENST00000342992.10:c.57255G>A (TTN) | ENSP00000343764.6:p.Ala19085= | |
| ENST00000359218.9:c.38139G>A (TTN) | ENSP00000352154.5:p.Ala12713= | |
| ENST00000460472.6:c.37764G>A (TTN) | ENSP00000434586.1:p.Ala12588= | |
| ENST00000589042.5:c.64959G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala21653= | |
| ENST00000591111.5:c.60036G>A (TTN) | ENSP00000465570.1:p.Ala20012= | |
| ENST00000615779.4:c.60036G>A (TTN) | ENSP00000483597.1:p.Ala20012= | |
| NM_001256850.1:c.60036G>A (TTN) | NP_001243779.1:p.Ala20012= | |
| NM_001267550.2:c.64959G>A (TTN) MANE Select | NP_001254479.2:p.Ala21653= | |
| NM_003319.4:c.37764G>A (TTN) | NP_003310.4:p.Ala12588= | |
| NM_133378.4:c.57255G>A (TTN) | NP_596869.4:p.Ala19085= | |
| NM_133432.3:c.38139G>A (TTN) | NP_597676.3:p.Ala12713= | |
| NM_133437.4:c.38340G>A (TTN) | NP_597681.4:p.Ala12780= | |
| NR_038271.1:n.597-12914C>T (TTN-AS1) | ||
| NR_038272.1:n.2877C>T (TTN-AS1) | ||
| XM_011511729.1:c.64056G>A (TTN) | XP_011510031.1:p.Ala21352= | |
| XM_011511730.1:c.37950G>A (TTN) | XP_011510032.1:p.Ala12650= | |
| XM_011511731.1:c.37809G>A (TTN) | XP_011510033.1:p.Ala12603= | |
| XM_017004819.1:c.63852G>A (TTN) | XP_016860308.1:p.Ala21284= | |
| XM_017004820.1:c.59250G>A (TTN) | XP_016860309.1:p.Ala19750= | |
| XM_017004821.1:c.59247G>A (TTN) | XP_016860310.1:p.Ala19749= | |
| XM_017004822.1:c.56289G>A (TTN) | XP_016860311.1:p.Ala18763= | |
| XM_017004823.1:c.37905G>A (TTN) | XP_016860312.1:p.Ala12635= | |
| XM_024453094.1:c.59400G>A (TTN) | XP_024308862.1:p.Ala19800= | |
| XM_024453095.1:c.59397G>A (TTN) | XP_024308863.1:p.Ala19799= | |
| XM_024453096.1:c.58830G>A (TTN) | XP_024308864.1:p.Ala19610= | |
| XM_024453097.1:c.56172G>A (TTN) | XP_024308865.1:p.Ala18724= | |
| XM_024453098.1:c.56091G>A (TTN) | XP_024308866.1:p.Ala18697= | |
| XM_024453099.1:c.37854G>A (TTN) | XP_024308867.1:p.Ala12618= | |
| XM_024453100.1:c.27708G>A (TTN) | XP_024308868.1:p.Ala9236= |