Linked Data
ClinVar Variation Id:
1155741
ClinVar RCV Id:
RCV001498173
dbSNP Id:
rs141993855
ExAC:
12:56115543 C / T
gnomAD v2:
12-56115543-C-T
gnomAD v3:
12-55721759-C-T
gnomAD v4:
12-55721759-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55721759C>T , CM000674.2:g.55721759C>T | GRCh38 |
| NC_000012.11:g.56115543C>T , CM000674.1:g.56115543C>T | GRCh37 |
| NC_000012.10:g.54401810C>T | NCBI36 |
| NG_008606.1:g.6393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257895.10:c.381C>T MANE Select | ENSP00000257895.6:p.Asp127= | |
| ENST00000257895.9:c.381C>T | ENSP00000257895.5:p.Asp127= | |
| ENST00000257899.3:c.396C>T | ||
| ENST00000547072.5:c.90C>T | ENSP00000449927.1:p.Asp30= | |
| ENST00000547301.1:n.489C>T | ||
| ENST00000548082.1:c.381C>T | ENSP00000447128.1:p.Asp127= | |
| ENST00000548123.1:c.300+265C>T | ||
| ENST00000548486.1:n.391C>T | ||
| ENST00000549424.1:c.*53C>T | ENSP00000447621.1:n.*53C>T | |
| ENST00000550412.5:c.*53C>T | ENSP00000447650.1:n.*53C>T | |
| ENST00000550608.1:n.520C>T | ||
| ENST00000551946.5:c.*184C>T | ENSP00000450201.1:n.*184C>T | |
| ENST00000552930.5:c.90C>T | ENSP00000448014.1:p.Asp30= | |
| ENST00000553160.1:n.406-436C>T | ||
| ENST00000553187.5:n.391C>T | ||
| NM_001199771.1:c.381C>T | NP_001186700.1:p.Asp127= | |
| NM_002905.3:c.381C>T | NP_002896.2:p.Asp127= | |
| NR_037658.1:n.440C>T | ||
| NM_001199771.2:c.381C>T | NP_001186700.1:p.Asp127= | |
| NM_002905.5:c.381C>T MANE Select | NP_002896.2:p.Asp127= | |
| NM_001199771.3:c.381C>T | NP_001186700.1:p.Asp127= |