Linked Data
ClinVar Variation Id:
287679
dbSNP Id:
rs759122929
ExAC:
2:179442017 C / T
gnomAD v2:
2-179442017-C-T
gnomAD v3:
2-178577290-C-T
gnomAD v4:
2-178577290-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178577290C>T , CM000664.2:g.178577290C>T | GRCh38 |
| NC_000002.11:g.179442017C>T , CM000664.1:g.179442017C>T | GRCh37 |
| NC_000002.10:g.179150263C>T | NCBI36 |
| NG_011618.3:g.258513G>A , LRG_391:g.258513G>A | |
| NG_051363.1:g.59464C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.61341G>A (TTN) | ENSP00000343764.6:p.Ala20447= | |
| ENST00000342175.11:c.42426G>A (TTN) | ENSP00000340554.6:p.Ala14142= | |
| ENST00000359218.10:c.42225G>A (TTN) | ENSP00000352154.5:p.Ala14075= | |
| ENST00000342175.10:c.42426G>A (TTN) | ENSP00000340554.6:p.Ala14142= | |
| ENST00000342992.10:c.61341G>A (TTN) | ENSP00000343764.6:p.Ala20447= | |
| ENST00000359218.9:c.42225G>A (TTN) | ENSP00000352154.5:p.Ala14075= | |
| ENST00000460472.6:c.41850G>A (TTN) | ENSP00000434586.1:p.Ala13950= | |
| ENST00000589042.5:c.69045G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala23015= | |
| ENST00000591111.5:c.64122G>A (TTN) | ENSP00000465570.1:p.Ala21374= | |
| ENST00000615779.4:c.64122G>A (TTN) | ENSP00000483597.1:p.Ala21374= | |
| NM_001256850.1:c.64122G>A (TTN) | NP_001243779.1:p.Ala21374= | |
| NM_001267550.2:c.69045G>A (TTN) MANE Select | NP_001254479.2:p.Ala23015= | |
| NM_003319.4:c.41850G>A (TTN) | NP_003310.4:p.Ala13950= | |
| NM_133378.4:c.61341G>A (TTN) | NP_596869.4:p.Ala20447= | |
| NM_133432.3:c.42225G>A (TTN) | NP_597676.3:p.Ala14075= | |
| NM_133437.4:c.42426G>A (TTN) | NP_597681.4:p.Ala14142= | |
| NR_038271.1:n.596+5841C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-5282C>T (TTN-AS1) | ||
| XM_011511729.1:c.68142G>A (TTN) | XP_011510031.1:p.Ala22714= | |
| XM_011511730.1:c.42036G>A (TTN) | XP_011510032.1:p.Ala14012= | |
| XM_011511731.1:c.41895G>A (TTN) | XP_011510033.1:p.Ala13965= | |
| XM_017004819.1:c.67938G>A (TTN) | XP_016860308.1:p.Ala22646= | |
| XM_017004820.1:c.63336G>A (TTN) | XP_016860309.1:p.Ala21112= | |
| XM_017004821.1:c.63333G>A (TTN) | XP_016860310.1:p.Ala21111= | |
| XM_017004822.1:c.60375G>A (TTN) | XP_016860311.1:p.Ala20125= | |
| XM_017004823.1:c.41991G>A (TTN) | XP_016860312.1:p.Ala13997= | |
| XM_024453094.1:c.63486G>A (TTN) | XP_024308862.1:p.Ala21162= | |
| XM_024453095.1:c.63483G>A (TTN) | XP_024308863.1:p.Ala21161= | |
| XM_024453096.1:c.62916G>A (TTN) | XP_024308864.1:p.Ala20972= | |
| XM_024453097.1:c.60258G>A (TTN) | XP_024308865.1:p.Ala20086= | |
| XM_024453098.1:c.60177G>A (TTN) | XP_024308866.1:p.Ala20059= | |
| XM_024453099.1:c.41940G>A (TTN) | XP_024308867.1:p.Ala13980= | |
| XM_024453100.1:c.31794G>A (TTN) | XP_024308868.1:p.Ala10598= |