Linked Data
ClinVar Variation Id:
426807
dbSNP Id:
rs200212083
ExAC:
5:90079067 A / G
gnomAD v2:
5-90079067-A-G
gnomAD v3:
5-90783250-A-G
gnomAD v4:
5-90783250-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90783250A>G , CM000667.2:g.90783250A>G | GRCh38 |
| NC_000005.9:g.90079067A>G , CM000667.1:g.90079067A>G | GRCh37 |
| NC_000005.8:g.90114823A>G | NCBI36 |
| NG_007083.1:g.229451A>G | |
| NG_007083.2:g.258907A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.13358A>G MANE Select | ENSP00000384582.2:p.His4453Arg | |
| ENST00000425867.3:c.2312A>G | ENSP00000392618.3:p.His771Arg | |
| ENST00000638510.1:n.625A>G | ||
| ENST00000639431.1:c.265+107041A>G | ENSP00000491057.1:n.265+107041A>G | |
| ENST00000405460.6:c.13358A>G | ENSP00000384582.2:p.His4453Arg | |
| ENST00000425867.2:c.341A>G | ENSP00000392618.2:p.His114Arg | |
| NM_032119.3:c.13358A>G | NP_115495.3:p.His4453Arg | |
| NR_003149.1:n.13371A>G | ||
| XM_011543675.1:c.13355A>G | XP_011541977.1:p.His4452Arg | |
| XM_011543676.1:c.13277A>G | XP_011541978.1:p.His4426Arg | |
| XM_011543677.1:c.10661A>G | XP_011541979.1:p.His3554Arg | |
| XM_011543678.1:c.13358A>G | XP_011541980.1:p.His4453Arg | |
| NM_032119.4:c.13358A>G MANE Select | NP_115495.3:p.His4453Arg | |
| XM_017009963.2:c.13379A>G | XP_016865452.1:p.His4460Arg | |
| XM_017009964.2:c.13376A>G | XP_016865453.1:p.His4459Arg | |
| XM_017009965.1:c.13376A>G | XP_016865454.1:p.His4459Arg | |
| XM_017009966.2:c.13298A>G | XP_016865455.1:p.His4433Arg | |
| XM_017009967.1:c.13283A>G | XP_016865456.1:p.His4428Arg | |
| XM_017009968.2:c.13379A>G | XP_016865457.1:p.His4460Arg | |
| XM_017009969.2:c.13379A>G | XP_016865458.1:p.His4460Arg | |
| XM_017009970.2:c.13379A>G | XP_016865459.1:p.His4460Arg | |
| XM_017009971.2:c.13379A>G | XP_016865460.1:p.His4460Arg | |
| XM_017009972.1:c.6497A>G | XP_016865461.1:p.His2166Arg | |
| XM_017009973.1:c.6476A>G | XP_016865462.1:p.His2159Arg | |
| NR_003149.2:n.13374A>G |