Linked Data
ClinVar Variation Id:
1596709
ClinVar RCV Id:
RCV002117443
dbSNP Id:
rs144399015
ExAC:
15:66170247 A / G
gnomAD v2:
15-66170247-A-G
gnomAD v3:
15-65877909-A-G
gnomAD v4:
15-65877909-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65877909A>G , CM000677.2:g.65877909A>G | GRCh38 |
| NC_000015.9:g.66170247A>G , CM000677.1:g.66170247A>G | GRCh37 |
| NC_000015.8:g.63957301A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261890.7:c.384A>G MANE Select | ENSP00000261890.2:p.Leu128= | |
| ENST00000261890.6:c.384A>G | ENSP00000261890.2:p.Leu128= | |
| ENST00000564910.5:c.174A>G | ENSP00000455567.1:p.Leu58= | |
| ENST00000565075.5:c.384A>G | ENSP00000456638.1:p.Leu128= | |
| ENST00000566233.5:c.384A>G | ENSP00000454381.1:p.Leu128= | |
| ENST00000567671.1:c.27A>G | ENSP00000454673.1:p.Leu9= | |
| ENST00000569304.1:n.125-9792A>G | ||
| ENST00000569896.1:c.384A>G | ENSP00000456420.1:p.Leu128= | |
| NM_001206836.1:c.384A>G | NP_001193765.1:p.Leu128= | |
| NM_004663.4:c.384A>G | NP_004654.1:p.Leu128= | |
| NM_004663.5:c.384A>G MANE Select | NP_004654.1:p.Leu128= | |
| NM_001206836.2:c.384A>G | NP_001193765.1:p.Leu128= |