Linked Data
ClinVar Variation Id:
332742
ClinVar RCV Id:
RCV000303011
RCV000343285
RCV000357853
RCV000394606
RCV000404006
RCV000471925
RCV001531503
dbSNP Id:
rs774191975
ExAC:
2:179423203 C / T
gnomAD v2:
2-179423203-C-T
gnomAD v3:
2-178558476-C-T
gnomAD v4:
2-178558476-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178558476C>T , CM000664.2:g.178558476C>T | GRCh38 |
| NC_000002.11:g.179423203C>T , CM000664.1:g.179423203C>T | GRCh37 |
| NC_000002.10:g.179131449C>T | NCBI36 |
| NG_011618.3:g.277327G>A , LRG_391:g.277327G>A | |
| NG_051363.1:g.40650C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79279G>A (TTN) | ENSP00000343764.6:p.Ala26427Thr | |
| ENST00000342175.11:c.60364G>A (TTN) | ENSP00000340554.6:p.Ala20122Thr | |
| ENST00000359218.10:c.60163G>A (TTN) | ENSP00000352154.5:p.Ala20055Thr | |
| ENST00000342175.10:c.60364G>A (TTN) | ENSP00000340554.6:p.Ala20122Thr | |
| ENST00000342992.10:c.79279G>A (TTN) | ENSP00000343764.6:p.Ala26427Thr | |
| ENST00000359218.9:c.60163G>A (TTN) | ENSP00000352154.5:p.Ala20055Thr | |
| ENST00000460472.6:c.59788G>A (TTN) | ENSP00000434586.1:p.Ala19930Thr | |
| ENST00000589042.5:c.86983G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala28995Thr | |
| ENST00000591111.5:c.82060G>A (TTN) | ENSP00000465570.1:p.Ala27354Thr | |
| ENST00000615779.4:c.82060G>A (TTN) | ENSP00000483597.1:p.Ala27354Thr | |
| NM_001256850.1:c.82060G>A (TTN) | NP_001243779.1:p.Ala27354Thr | |
| NM_001267550.2:c.86983G>A (TTN) MANE Select | NP_001254479.2:p.Ala28995Thr | |
| NM_003319.4:c.59788G>A (TTN) | NP_003310.4:p.Ala19930Thr | |
| NM_133378.4:c.79279G>A (TTN) | NP_596869.4:p.Ala26427Thr | |
| NM_133432.3:c.60163G>A (TTN) | NP_597676.3:p.Ala20055Thr | |
| NM_133437.4:c.60364G>A (TTN) | NP_597681.4:p.Ala20122Thr | |
| NR_038271.1:n.447-12824C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+16115C>T (TTN-AS1) | ||
| XM_011511729.1:c.86080G>A (TTN) | XP_011510031.1:p.Ala28694Thr | |
| XM_011511730.1:c.59974G>A (TTN) | XP_011510032.1:p.Ala19992Thr | |
| XM_011511731.1:c.59833G>A (TTN) | XP_011510033.1:p.Ala19945Thr | |
| XM_017004819.1:c.85876G>A (TTN) | XP_016860308.1:p.Ala28626Thr | |
| XM_017004820.1:c.81274G>A (TTN) | XP_016860309.1:p.Ala27092Thr | |
| XM_017004821.1:c.81271G>A (TTN) | XP_016860310.1:p.Ala27091Thr | |
| XM_017004822.1:c.78313G>A (TTN) | XP_016860311.1:p.Ala26105Thr | |
| XM_017004823.1:c.59929G>A (TTN) | XP_016860312.1:p.Ala19977Thr | |
| XM_024453094.1:c.81424G>A (TTN) | XP_024308862.1:p.Ala27142Thr | |
| XM_024453095.1:c.81421G>A (TTN) | XP_024308863.1:p.Ala27141Thr | |
| XM_024453096.1:c.80854G>A (TTN) | XP_024308864.1:p.Ala26952Thr | |
| XM_024453097.1:c.78196G>A (TTN) | XP_024308865.1:p.Ala26066Thr | |
| XM_024453098.1:c.78115G>A (TTN) | XP_024308866.1:p.Ala26039Thr | |
| XM_024453099.1:c.59878G>A (TTN) | XP_024308867.1:p.Ala19960Thr | |
| XM_024453100.1:c.49732G>A (TTN) | XP_024308868.1:p.Ala16578Thr |