Linked Data
ClinVar Variation Id:
223389
dbSNP Id:
rs869312121
gnomAD v3:
2-178546476-G-A
gnomAD v4:
2-178546476-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546476G>A , CM000664.2:g.178546476G>A | GRCh38 |
| NC_000002.11:g.179411203G>A , CM000664.1:g.179411203G>A | GRCh37 |
| NC_000002.10:g.179119449G>A | NCBI36 |
| NG_011618.3:g.289327C>T , LRG_391:g.289327C>T | |
| NG_051363.1:g.28650G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87151C>T (TTN) | ENSP00000343764.6:p.Arg29051Ter | |
| ENST00000342175.11:c.68236C>T (TTN) | ENSP00000340554.6:p.Arg22746Ter | |
| ENST00000359218.10:c.68035C>T (TTN) | ENSP00000352154.5:p.Arg22679Ter | |
| ENST00000342175.10:c.68236C>T (TTN) | ENSP00000340554.6:p.Arg22746Ter | |
| ENST00000342992.10:c.87151C>T (TTN) | ENSP00000343764.6:p.Arg29051Ter | |
| ENST00000359218.9:c.68035C>T (TTN) | ENSP00000352154.5:p.Arg22679Ter | |
| ENST00000460472.6:c.67660C>T (TTN) | ENSP00000434586.1:p.Arg22554Ter | |
| ENST00000589042.5:c.94855C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg31619Ter | |
| ENST00000591111.5:c.89932C>T (TTN) | ENSP00000465570.1:p.Arg29978Ter | |
| ENST00000615779.4:c.89932C>T (TTN) | ENSP00000483597.1:p.Arg29978Ter | |
| NM_001256850.1:c.89932C>T (TTN) | NP_001243779.1:p.Arg29978Ter | |
| NM_001267550.2:c.94855C>T (TTN) MANE Select | NP_001254479.2:p.Arg31619Ter | |
| NM_003319.4:c.67660C>T (TTN) | NP_003310.4:p.Arg22554Ter | |
| NM_133378.4:c.87151C>T (TTN) | NP_596869.4:p.Arg29051Ter | |
| NM_133432.3:c.68035C>T (TTN) | NP_597676.3:p.Arg22679Ter | |
| NM_133437.4:c.68236C>T (TTN) | NP_597681.4:p.Arg22746Ter | |
| NR_038271.1:n.446+22840G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+4115G>A (TTN-AS1) | ||
| XM_011511729.1:c.93952C>T (TTN) | XP_011510031.1:p.Arg31318Ter | |
| XM_011511730.1:c.67846C>T (TTN) | XP_011510032.1:p.Arg22616Ter | |
| XM_011511731.1:c.67705C>T (TTN) | XP_011510033.1:p.Arg22569Ter | |
| XM_017004819.1:c.93748C>T (TTN) | XP_016860308.1:p.Arg31250Ter | |
| XM_017004820.1:c.89146C>T (TTN) | XP_016860309.1:p.Arg29716Ter | |
| XM_017004821.1:c.89143C>T (TTN) | XP_016860310.1:p.Arg29715Ter | |
| XM_017004822.1:c.86185C>T (TTN) | XP_016860311.1:p.Arg28729Ter | |
| XM_017004823.1:c.67801C>T (TTN) | XP_016860312.1:p.Arg22601Ter | |
| XM_024453094.1:c.89296C>T (TTN) | XP_024308862.1:p.Arg29766Ter | |
| XM_024453095.1:c.89293C>T (TTN) | XP_024308863.1:p.Arg29765Ter | |
| XM_024453096.1:c.88726C>T (TTN) | XP_024308864.1:p.Arg29576Ter | |
| XM_024453097.1:c.86068C>T (TTN) | XP_024308865.1:p.Arg28690Ter | |
| XM_024453098.1:c.85987C>T (TTN) | XP_024308866.1:p.Arg28663Ter | |
| XM_024453099.1:c.67750C>T (TTN) | XP_024308867.1:p.Arg22584Ter | |
| XM_024453100.1:c.57604C>T (TTN) | XP_024308868.1:p.Arg19202Ter |