Linked Data
ClinVar Variation Id:
1350634
ClinVar RCV Id:
RCV002042013
dbSNP Id:
rs1488443545
gnomAD v2:
12-56115719-C-CT
gnomAD v3:
12-55721935-C-CT
gnomAD v4:
12-55721935-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55721936dup , CM000674.2:g.55721936dup | GRCh38 |
| NC_000012.11:g.56115720dup , CM000674.1:g.56115720dup | GRCh37 |
| NC_000012.10:g.54401987dup | NCBI36 |
| NG_008606.1:g.6570dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257895.10:c.558dup MANE Select | ENSP00000257895.6:p.Asp187Ter | |
| ENST00000257895.9:c.558dup | ENSP00000257895.5:p.Asp187Ter | |
| ENST00000257899.3:c.573dup | ||
| ENST00000547072.5:c.267dup | ENSP00000449927.1:p.Asp90Ter | |
| ENST00000548082.1:c.558dup | ENSP00000447128.1:p.Asp187Ter | |
| ENST00000548123.1:c.300+442dup | ||
| ENST00000548486.1:n.568dup | ||
| ENST00000550412.5:c.*230dup | ENSP00000447650.1:n.*230dup | |
| ENST00000550608.1:n.697dup | ||
| ENST00000551946.5:c.*361dup | ENSP00000450201.1:n.*361dup | |
| ENST00000553160.1:n.406-259dup | ||
| ENST00000553187.5:n.568dup | ||
| NM_001199771.1:c.558dup | NP_001186700.1:p.Asp187Ter | |
| NM_002905.3:c.558dup | NP_002896.2:p.Asp187Ter | |
| NR_037658.1:n.617dup | ||
| NM_001199771.2:c.558dup | NP_001186700.1:p.Asp187Ter | |
| NM_002905.5:c.558dup MANE Select | NP_002896.2:p.Asp187Ter | |
| NM_001199771.3:c.558dup | NP_001186700.1:p.Asp187Ter |