Linked Data
ClinVar Variation Id:
467458
ClinVar RCV Id:
RCV000528939
RCV000610035
RCV001131871
RCV001131870
RCV001131872
RCV001131868
RCV001131869
RCV001571924
dbSNP Id:
rs567446185
ExAC:
2:179437342 C / T
gnomAD v2:
2-179437342-C-T
gnomAD v3:
2-178572615-C-T
gnomAD v4:
2-178572615-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572615C>T , CM000664.2:g.178572615C>T | GRCh38 |
| NC_000002.11:g.179437342C>T , CM000664.1:g.179437342C>T | GRCh37 |
| NC_000002.10:g.179145588C>T | NCBI36 |
| NG_011618.3:g.263188G>A , LRG_391:g.263188G>A | |
| NG_051363.1:g.54789C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.65813G>A (TTN) | ENSP00000343764.6:p.Gly21938Asp | |
| ENST00000342175.11:c.46898G>A (TTN) | ENSP00000340554.6:p.Gly15633Asp | |
| ENST00000359218.10:c.46697G>A (TTN) | ENSP00000352154.5:p.Gly15566Asp | |
| ENST00000342175.10:c.46898G>A (TTN) | ENSP00000340554.6:p.Gly15633Asp | |
| ENST00000342992.10:c.65813G>A (TTN) | ENSP00000343764.6:p.Gly21938Asp | |
| ENST00000359218.9:c.46697G>A (TTN) | ENSP00000352154.5:p.Gly15566Asp | |
| ENST00000460472.6:c.46322G>A (TTN) | ENSP00000434586.1:p.Gly15441Asp | |
| ENST00000589042.5:c.73517G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly24506Asp | |
| ENST00000591111.5:c.68594G>A (TTN) | ENSP00000465570.1:p.Gly22865Asp | |
| ENST00000615779.4:c.68594G>A (TTN) | ENSP00000483597.1:p.Gly22865Asp | |
| NM_001256850.1:c.68594G>A (TTN) | NP_001243779.1:p.Gly22865Asp | |
| NM_001267550.2:c.73517G>A (TTN) MANE Select | NP_001254479.2:p.Gly24506Asp | |
| NM_003319.4:c.46322G>A (TTN) | NP_003310.4:p.Gly15441Asp | |
| NM_133378.4:c.65813G>A (TTN) | NP_596869.4:p.Gly21938Asp | |
| NM_133432.3:c.46697G>A (TTN) | NP_597676.3:p.Gly15566Asp | |
| NM_133437.4:c.46898G>A (TTN) | NP_597681.4:p.Gly15633Asp | |
| NR_038271.1:n.596+1166C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-9957C>T (TTN-AS1) | ||
| XM_011511729.1:c.72614G>A (TTN) | XP_011510031.1:p.Gly24205Asp | |
| XM_011511730.1:c.46508G>A (TTN) | XP_011510032.1:p.Gly15503Asp | |
| XM_011511731.1:c.46367G>A (TTN) | XP_011510033.1:p.Gly15456Asp | |
| XM_017004819.1:c.72410G>A (TTN) | XP_016860308.1:p.Gly24137Asp | |
| XM_017004820.1:c.67808G>A (TTN) | XP_016860309.1:p.Gly22603Asp | |
| XM_017004821.1:c.67805G>A (TTN) | XP_016860310.1:p.Gly22602Asp | |
| XM_017004822.1:c.64847G>A (TTN) | XP_016860311.1:p.Gly21616Asp | |
| XM_017004823.1:c.46463G>A (TTN) | XP_016860312.1:p.Gly15488Asp | |
| XM_024453094.1:c.67958G>A (TTN) | XP_024308862.1:p.Gly22653Asp | |
| XM_024453095.1:c.67955G>A (TTN) | XP_024308863.1:p.Gly22652Asp | |
| XM_024453096.1:c.67388G>A (TTN) | XP_024308864.1:p.Gly22463Asp | |
| XM_024453097.1:c.64730G>A (TTN) | XP_024308865.1:p.Gly21577Asp | |
| XM_024453098.1:c.64649G>A (TTN) | XP_024308866.1:p.Gly21550Asp | |
| XM_024453099.1:c.46412G>A (TTN) | XP_024308867.1:p.Gly15471Asp | |
| XM_024453100.1:c.36266G>A (TTN) | XP_024308868.1:p.Gly12089Asp |