Linked Data
ClinVar Variation Id:
501193
dbSNP Id:
rs200096597
ExAC:
2:179427279 C / T
gnomAD v2:
2-179427279-C-T
gnomAD v3:
2-178562552-C-T
gnomAD v4:
2-178562552-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562552C>T , CM000664.2:g.178562552C>T | GRCh38 |
| NC_000002.11:g.179427279C>T , CM000664.1:g.179427279C>T | GRCh37 |
| NC_000002.10:g.179135525C>T | NCBI36 |
| NG_011618.3:g.273251G>A , LRG_391:g.273251G>A | |
| NG_051363.1:g.44726C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75876G>A (TTN) | ENSP00000343764.6:p.Val25292= | |
| ENST00000342175.11:c.56961G>A (TTN) | ENSP00000340554.6:p.Val18987= | |
| ENST00000359218.10:c.56760G>A (TTN) | ENSP00000352154.5:p.Val18920= | |
| ENST00000342175.10:c.56961G>A (TTN) | ENSP00000340554.6:p.Val18987= | |
| ENST00000342992.10:c.75876G>A (TTN) | ENSP00000343764.6:p.Val25292= | |
| ENST00000359218.9:c.56760G>A (TTN) | ENSP00000352154.5:p.Val18920= | |
| ENST00000460472.6:c.56385G>A (TTN) | ENSP00000434586.1:p.Val18795= | |
| ENST00000589042.5:c.83580G>A (TTN) MANE Select | ENSP00000467141.1:p.Val27860= | |
| ENST00000591111.5:c.78657G>A (TTN) | ENSP00000465570.1:p.Val26219= | |
| ENST00000615779.4:c.78657G>A (TTN) | ENSP00000483597.1:p.Val26219= | |
| NM_001256850.1:c.78657G>A (TTN) | NP_001243779.1:p.Val26219= | |
| NM_001267550.2:c.83580G>A (TTN) MANE Select | NP_001254479.2:p.Val27860= | |
| NM_003319.4:c.56385G>A (TTN) | NP_003310.4:p.Val18795= | |
| NM_133378.4:c.75876G>A (TTN) | NP_596869.4:p.Val25292= | |
| NM_133432.3:c.56760G>A (TTN) | NP_597676.3:p.Val18920= | |
| NM_133437.4:c.56961G>A (TTN) | NP_597681.4:p.Val18987= | |
| NR_038271.1:n.447-8748C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-20020C>T (TTN-AS1) | ||
| XM_011511729.1:c.82677G>A (TTN) | XP_011510031.1:p.Val27559= | |
| XM_011511730.1:c.56571G>A (TTN) | XP_011510032.1:p.Val18857= | |
| XM_011511731.1:c.56430G>A (TTN) | XP_011510033.1:p.Val18810= | |
| XM_017004819.1:c.82473G>A (TTN) | XP_016860308.1:p.Val27491= | |
| XM_017004820.1:c.77871G>A (TTN) | XP_016860309.1:p.Val25957= | |
| XM_017004821.1:c.77868G>A (TTN) | XP_016860310.1:p.Val25956= | |
| XM_017004822.1:c.74910G>A (TTN) | XP_016860311.1:p.Val24970= | |
| XM_017004823.1:c.56526G>A (TTN) | XP_016860312.1:p.Val18842= | |
| XM_024453094.1:c.78021G>A (TTN) | XP_024308862.1:p.Val26007= | |
| XM_024453095.1:c.78018G>A (TTN) | XP_024308863.1:p.Val26006= | |
| XM_024453096.1:c.77451G>A (TTN) | XP_024308864.1:p.Val25817= | |
| XM_024453097.1:c.74793G>A (TTN) | XP_024308865.1:p.Val24931= | |
| XM_024453098.1:c.74712G>A (TTN) | XP_024308866.1:p.Val24904= | |
| XM_024453099.1:c.56475G>A (TTN) | XP_024308867.1:p.Val18825= | |
| XM_024453100.1:c.46329G>A (TTN) | XP_024308868.1:p.Val15443= |