Linked Data
ClinVar Variation Id:
96315
dbSNP Id:
rs149375775
ExAC:
2:179411969 C / T
gnomAD v2:
2-179411969-C-T
gnomAD v3:
2-178547242-C-T
gnomAD v4:
2-178547242-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547242C>T , CM000664.2:g.178547242C>T | GRCh38 |
| NC_000002.11:g.179411969C>T , CM000664.1:g.179411969C>T | GRCh37 |
| NC_000002.10:g.179120215C>T | NCBI36 |
| NG_011618.3:g.288561G>A , LRG_391:g.288561G>A | |
| NG_051363.1:g.29416C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86579G>A (TTN) | ENSP00000343764.6:p.Arg28860His | |
| ENST00000342175.11:c.67664G>A (TTN) | ENSP00000340554.6:p.Arg22555His | |
| ENST00000359218.10:c.67463G>A (TTN) | ENSP00000352154.5:p.Arg22488His | |
| ENST00000342175.10:c.67664G>A (TTN) | ENSP00000340554.6:p.Arg22555His | |
| ENST00000342992.10:c.86579G>A (TTN) | ENSP00000343764.6:p.Arg28860His | |
| ENST00000359218.9:c.67463G>A (TTN) | ENSP00000352154.5:p.Arg22488His | |
| ENST00000460472.6:c.67088G>A (TTN) | ENSP00000434586.1:p.Arg22363His | |
| ENST00000589042.5:c.94283G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg31428His | |
| ENST00000591111.5:c.89360G>A (TTN) | ENSP00000465570.1:p.Arg29787His | |
| ENST00000615779.4:c.89360G>A (TTN) | ENSP00000483597.1:p.Arg29787His | |
| NM_001256850.1:c.89360G>A (TTN) | NP_001243779.1:p.Arg29787His | |
| NM_001267550.2:c.94283G>A (TTN) MANE Select | NP_001254479.2:p.Arg31428His | |
| NM_003319.4:c.67088G>A (TTN) | NP_003310.4:p.Arg22363His | |
| NM_133378.4:c.86579G>A (TTN) | NP_596869.4:p.Arg28860His | |
| NM_133432.3:c.67463G>A (TTN) | NP_597676.3:p.Arg22488His | |
| NM_133437.4:c.67664G>A (TTN) | NP_597681.4:p.Arg22555His | |
| NR_038271.1:n.446+23606C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+4881C>T (TTN-AS1) | ||
| XM_011511729.1:c.93380G>A (TTN) | XP_011510031.1:p.Arg31127His | |
| XM_011511730.1:c.67274G>A (TTN) | XP_011510032.1:p.Arg22425His | |
| XM_011511731.1:c.67133G>A (TTN) | XP_011510033.1:p.Arg22378His | |
| XM_017004819.1:c.93176G>A (TTN) | XP_016860308.1:p.Arg31059His | |
| XM_017004820.1:c.88574G>A (TTN) | XP_016860309.1:p.Arg29525His | |
| XM_017004821.1:c.88571G>A (TTN) | XP_016860310.1:p.Arg29524His | |
| XM_017004822.1:c.85613G>A (TTN) | XP_016860311.1:p.Arg28538His | |
| XM_017004823.1:c.67229G>A (TTN) | XP_016860312.1:p.Arg22410His | |
| XM_024453094.1:c.88724G>A (TTN) | XP_024308862.1:p.Arg29575His | |
| XM_024453095.1:c.88721G>A (TTN) | XP_024308863.1:p.Arg29574His | |
| XM_024453096.1:c.88154G>A (TTN) | XP_024308864.1:p.Arg29385His | |
| XM_024453097.1:c.85496G>A (TTN) | XP_024308865.1:p.Arg28499His | |
| XM_024453098.1:c.85415G>A (TTN) | XP_024308866.1:p.Arg28472His | |
| XM_024453099.1:c.67178G>A (TTN) | XP_024308867.1:p.Arg22393His | |
| XM_024453100.1:c.57032G>A (TTN) | XP_024308868.1:p.Arg19011His |