Linked Data
ClinVar Variation Id:
500115
dbSNP Id:
rs201480340
ExAC:
5:90074395 A / G
gnomAD v2:
5-90074395-A-G
gnomAD v3:
5-90778578-A-G
gnomAD v4:
5-90778578-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90778578A>G , CM000667.2:g.90778578A>G | GRCh38 |
| NC_000005.9:g.90074395A>G , CM000667.1:g.90074395A>G | GRCh37 |
| NC_000005.8:g.90110151A>G | NCBI36 |
| NG_007083.1:g.224779A>G | |
| NG_007083.2:g.254235A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12818A>G MANE Select | ENSP00000384582.2:p.His4273Arg | |
| ENST00000425867.3:c.1772A>G | ENSP00000392618.3:p.His591Arg | |
| ENST00000639431.1:c.265+102369A>G | ENSP00000491057.1:n.265+102369A>G | |
| ENST00000640464.1:n.3237A>G | ||
| ENST00000405460.6:c.12818A>G | ENSP00000384582.2:p.His4273Arg | |
| NM_032119.3:c.12818A>G | NP_115495.3:p.His4273Arg | |
| NR_003149.1:n.12831A>G | ||
| XM_011543675.1:c.12815A>G | XP_011541977.1:p.His4272Arg | |
| XM_011543676.1:c.12737A>G | XP_011541978.1:p.His4246Arg | |
| XM_011543677.1:c.10121A>G | XP_011541979.1:p.His3374Arg | |
| XM_011543678.1:c.12818A>G | XP_011541980.1:p.His4273Arg | |
| NM_032119.4:c.12818A>G MANE Select | NP_115495.3:p.His4273Arg | |
| XM_017009963.2:c.12839A>G | XP_016865452.1:p.His4280Arg | |
| XM_017009964.2:c.12836A>G | XP_016865453.1:p.His4279Arg | |
| XM_017009965.1:c.12836A>G | XP_016865454.1:p.His4279Arg | |
| XM_017009966.2:c.12758A>G | XP_016865455.1:p.His4253Arg | |
| XM_017009967.1:c.12743A>G | XP_016865456.1:p.His4248Arg | |
| XM_017009968.2:c.12839A>G | XP_016865457.1:p.His4280Arg | |
| XM_017009969.2:c.12839A>G | XP_016865458.1:p.His4280Arg | |
| XM_017009970.2:c.12839A>G | XP_016865459.1:p.His4280Arg | |
| XM_017009971.2:c.12839A>G | XP_016865460.1:p.His4280Arg | |
| XM_017009972.1:c.5957A>G | XP_016865461.1:p.His1986Arg | |
| XM_017009973.1:c.5936A>G | XP_016865462.1:p.His1979Arg | |
| NR_003149.2:n.12834A>G |