Linked Data
ClinVar Variation Id:
195006
dbSNP Id:
rs72677229
ExAC:
2:179484593 C / T
gnomAD v2:
2-179484593-C-T
gnomAD v3:
2-178619866-C-T
gnomAD v4:
2-178619866-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178619866C>T , CM000664.2:g.178619866C>T | GRCh38 |
| NC_000002.11:g.179484593C>T , CM000664.1:g.179484593C>T | GRCh37 |
| NC_000002.10:g.179192838C>T | NCBI36 |
| NG_011618.3:g.215937G>A , LRG_391:g.215937G>A | |
| NG_051363.1:g.102040C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.38747G>A (TTN) | ENSP00000343764.6:p.Arg12916Lys | |
| ENST00000342175.11:c.19832G>A (TTN) | ENSP00000340554.6:p.Arg6611Lys | |
| ENST00000359218.10:c.19631G>A (TTN) | ENSP00000352154.5:p.Arg6544Lys | |
| ENST00000342175.10:c.19832G>A (TTN) | ENSP00000340554.6:p.Arg6611Lys | |
| ENST00000342992.10:c.38747G>A (TTN) | ENSP00000343764.6:p.Arg12916Lys | |
| ENST00000359218.9:c.19631G>A (TTN) | ENSP00000352154.5:p.Arg6544Lys | |
| ENST00000460472.6:c.19256G>A (TTN) | ENSP00000434586.1:p.Arg6419Lys | |
| ENST00000589042.5:c.46451G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg15484Lys | |
| ENST00000591111.5:c.41528G>A (TTN) | ENSP00000465570.1:p.Arg13843Lys | |
| ENST00000615779.4:c.41528G>A (TTN) | ENSP00000483597.1:p.Arg13843Lys | |
| NM_001256850.1:c.41528G>A (TTN) | NP_001243779.1:p.Arg13843Lys | |
| NM_001267550.2:c.46451G>A (TTN) MANE Select | NP_001254479.2:p.Arg15484Lys | |
| NM_003319.4:c.19256G>A (TTN) | NP_003310.4:p.Arg6419Lys | |
| NM_133378.4:c.38747G>A (TTN) | NP_596869.4:p.Arg12916Lys | |
| NM_133432.3:c.19631G>A (TTN) | NP_597676.3:p.Arg6544Lys | |
| NM_133437.4:c.19832G>A (TTN) | NP_597681.4:p.Arg6611Lys | |
| NR_038271.1:n.1718C>T (TTN-AS1) | ||
| XM_011511729.1:c.45548G>A (TTN) | XP_011510031.1:p.Arg15183Lys | |
| XM_011511730.1:c.19442G>A (TTN) | XP_011510032.1:p.Arg6481Lys | |
| XM_011511731.1:c.19301G>A (TTN) | XP_011510033.1:p.Arg6434Lys | |
| XM_017004819.1:c.45344G>A (TTN) | XP_016860308.1:p.Arg15115Lys | |
| XM_017004820.1:c.40742G>A (TTN) | XP_016860309.1:p.Arg13581Lys | |
| XM_017004821.1:c.40739G>A (TTN) | XP_016860310.1:p.Arg13580Lys | |
| XM_017004822.1:c.37781G>A (TTN) | XP_016860311.1:p.Arg12594Lys | |
| XM_017004823.1:c.19397G>A (TTN) | XP_016860312.1:p.Arg6466Lys | |
| XM_024453094.1:c.40892G>A (TTN) | XP_024308862.1:p.Arg13631Lys | |
| XM_024453095.1:c.40889G>A (TTN) | XP_024308863.1:p.Arg13630Lys | |
| XM_024453096.1:c.40322G>A (TTN) | XP_024308864.1:p.Arg13441Lys | |
| XM_024453097.1:c.37664G>A (TTN) | XP_024308865.1:p.Arg12555Lys | |
| XM_024453098.1:c.37583G>A (TTN) | XP_024308866.1:p.Arg12528Lys | |
| XM_024453099.1:c.19346G>A (TTN) | XP_024308867.1:p.Arg6449Lys | |
| XM_024453100.1:c.9200G>A (TTN) | XP_024308868.1:p.Arg3067Lys |