Linked Data
ClinVar Variation Id:
15031
dbSNP Id:
rs35710727
gnomAD v3:
11-5250055-A-G
gnomAD v4:
11-5250055-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5250055A>G , CM000673.2:g.5250055A>G | GRCh38 |
| NC_000011.9:g.5271285A>G , CM000673.1:g.5271285A>G | GRCh37 |
| NC_000011.8:g.5227861A>G | NCBI36 |
| NG_000007.3:g.47561T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642908.1:c.316-1568T>C | ENSP00000495346.1:n.316-1568T>C | |
| ENST00000647543.1:c.379-1568T>C | ENSP00000496470.1:n.379-1568T>C | |
| ENST00000620888.4:c.316-1568T>C | ENSP00000479637.1:n.316-1568T>C |