Linked Data
ClinVar Variation Id:
202779
dbSNP Id:
rs794729474
gnomAD v2:
2-179452243-C-T
gnomAD v3:
2-178587516-C-T
gnomAD v4:
2-178587516-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587516C>T , CM000664.2:g.178587516C>T | GRCh38 |
| NC_000002.11:g.179452243C>T , CM000664.1:g.179452243C>T | GRCh37 |
| NC_000002.10:g.179160489C>T | NCBI36 |
| NG_011618.3:g.248287G>A , LRG_391:g.248287G>A | |
| NG_051363.1:g.69690C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56089G>A (TTN) | ENSP00000343764.6:p.Asp18697Asn | |
| ENST00000342175.11:c.37174G>A (TTN) | ENSP00000340554.6:p.Asp12392Asn | |
| ENST00000359218.10:c.36973G>A (TTN) | ENSP00000352154.5:p.Asp12325Asn | |
| ENST00000342175.10:c.37174G>A (TTN) | ENSP00000340554.6:p.Asp12392Asn | |
| ENST00000342992.10:c.56089G>A (TTN) | ENSP00000343764.6:p.Asp18697Asn | |
| ENST00000359218.9:c.36973G>A (TTN) | ENSP00000352154.5:p.Asp12325Asn | |
| ENST00000460472.6:c.36598G>A (TTN) | ENSP00000434586.1:p.Asp12200Asn | |
| ENST00000589042.5:c.63793G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp21265Asn | |
| ENST00000591111.5:c.58870G>A (TTN) | ENSP00000465570.1:p.Asp19624Asn | |
| ENST00000615779.4:c.58870G>A (TTN) | ENSP00000483597.1:p.Asp19624Asn | |
| NM_001256850.1:c.58870G>A (TTN) | NP_001243779.1:p.Asp19624Asn | |
| NM_001267550.2:c.63793G>A (TTN) MANE Select | NP_001254479.2:p.Asp21265Asn | |
| NM_003319.4:c.36598G>A (TTN) | NP_003310.4:p.Asp12200Asn | |
| NM_133378.4:c.56089G>A (TTN) | NP_596869.4:p.Asp18697Asn | |
| NM_133432.3:c.36973G>A (TTN) | NP_597676.3:p.Asp12325Asn | |
| NM_133437.4:c.37174G>A (TTN) | NP_597681.4:p.Asp12392Asn | |
| NR_038271.1:n.597-10080C>T (TTN-AS1) | ||
| NR_038272.1:n.3188+2523C>T (TTN-AS1) | ||
| XM_011511729.1:c.62890G>A (TTN) | XP_011510031.1:p.Asp20964Asn | |
| XM_011511730.1:c.36784G>A (TTN) | XP_011510032.1:p.Asp12262Asn | |
| XM_011511731.1:c.36643G>A (TTN) | XP_011510033.1:p.Asp12215Asn | |
| XM_017004819.1:c.62686G>A (TTN) | XP_016860308.1:p.Asp20896Asn | |
| XM_017004820.1:c.58084G>A (TTN) | XP_016860309.1:p.Asp19362Asn | |
| XM_017004821.1:c.58081G>A (TTN) | XP_016860310.1:p.Asp19361Asn | |
| XM_017004822.1:c.55123G>A (TTN) | XP_016860311.1:p.Asp18375Asn | |
| XM_017004823.1:c.36739G>A (TTN) | XP_016860312.1:p.Asp12247Asn | |
| XM_024453094.1:c.58234G>A (TTN) | XP_024308862.1:p.Asp19412Asn | |
| XM_024453095.1:c.58231G>A (TTN) | XP_024308863.1:p.Asp19411Asn | |
| XM_024453096.1:c.57664G>A (TTN) | XP_024308864.1:p.Asp19222Asn | |
| XM_024453097.1:c.55006G>A (TTN) | XP_024308865.1:p.Asp18336Asn | |
| XM_024453098.1:c.54925G>A (TTN) | XP_024308866.1:p.Asp18309Asn | |
| XM_024453099.1:c.36688G>A (TTN) | XP_024308867.1:p.Asp12230Asn | |
| XM_024453100.1:c.26542G>A (TTN) | XP_024308868.1:p.Asp8848Asn |