Linked Data
ClinVar Variation Id:
531761
dbSNP Id:
rs147006017
ExAC:
3:49455073 C / T
gnomAD v2:
3-49455073-C-T
gnomAD v3:
3-49417640-C-T
gnomAD v4:
3-49417640-C-T
COSMIC:
COSM1046149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49417640C>T , CM000665.2:g.49417640C>T | GRCh38 |
| NC_000003.11:g.49455073C>T , CM000665.1:g.49455073C>T | GRCh37 |
| NC_000003.10:g.49430077C>T | NCBI36 |
| NG_015986.1:g.10039G>A , LRG_537:g.10039G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.1112G>A MANE Select | ENSP00000273588.3:p.Arg371His | |
| ENST00000395338.7:c.1112G>A | ENSP00000378747.2:p.Arg371His | |
| ENST00000399379.7:c.844G>A | ENSP00000399943.2:n.844G>A | |
| ENST00000427987.6:c.968G>A | ENSP00000403821.2:p.Arg323His | |
| ENST00000465925.6:n.3114G>A | ||
| ENST00000473163.2:n.3728G>A | ||
| ENST00000476127.6:n.1341G>A | ||
| ENST00000476226.6:n.1533G>A | ||
| ENST00000478594.6:n.1539G>A | ||
| ENST00000493046.6:n.2828G>A | ||
| ENST00000538581.6:c.968G>A | ENSP00000443200.2:p.Arg323His | |
| ENST00000635772.1:n.1950G>A | ||
| ENST00000635798.1:n.470G>A | ||
| ENST00000635808.1:c.1031G>A | ENSP00000489620.1:p.Arg344His | |
| ENST00000635889.1:n.1605G>A | ||
| ENST00000635907.1:n.670G>A | ||
| ENST00000635936.1:n.1380G>A | ||
| ENST00000636023.1:c.*285G>A | ENSP00000489969.1:n.*285G>A | |
| ENST00000636070.1:c.*892G>A | ENSP00000490160.1:n.*892G>A | |
| ENST00000636148.1:n.3165G>A | ||
| ENST00000636166.1:c.1349G>A | ENSP00000490106.1:p.Arg450His | |
| ENST00000636188.1:c.291G>A | ||
| ENST00000636199.1:c.674G>A | ENSP00000490871.1:p.Arg225His | |
| ENST00000636204.1:n.2394G>A | ||
| ENST00000636461.1:c.4646G>A | ||
| ENST00000636522.1:c.944G>A | ENSP00000489758.1:p.Arg315His | |
| ENST00000636587.1:n.1198G>A | ||
| ENST00000636594.1:n.733G>A | ||
| ENST00000636597.1:c.629G>A | ENSP00000490251.1:p.Arg210His | |
| ENST00000636725.1:n.1828G>A | ||
| ENST00000636803.1:n.1454G>A | ||
| ENST00000636865.1:c.956G>A | ENSP00000490601.1:p.Arg319His | |
| ENST00000636871.1:n.1477G>A | ||
| ENST00000636978.1:n.1224G>A | ||
| ENST00000636991.1:n.1557G>A | ||
| ENST00000637059.1:c.564G>A | ENSP00000490153.1:n.564G>A | |
| ENST00000637088.1:n.5924G>A | ||
| ENST00000637114.1:n.1212G>A | ||
| ENST00000637268.1:n.2013G>A | ||
| ENST00000637291.1:n.1846G>A | ||
| ENST00000637442.1:n.3333G>A | ||
| ENST00000637455.1:c.923G>A | ENSP00000489628.1:p.Arg308His | |
| ENST00000637457.1:n.1973G>A | ||
| ENST00000637527.1:n.404G>A | ||
| ENST00000637682.1:c.956G>A | ENSP00000489856.1:p.Arg319His | |
| ENST00000637684.1:n.1322G>A | ||
| ENST00000637821.1:c.*1307G>A | ENSP00000490482.1:n.*1307G>A | |
| ENST00000637914.1:n.3006G>A | ||
| ENST00000637982.1:n.1526G>A | ||
| ENST00000637994.1:n.1652G>A | ||
| ENST00000638014.1:c.3893G>A | ||
| ENST00000638063.1:c.1031G>A | ENSP00000489760.1:p.Arg344His | |
| ENST00000638079.1:c.*1624G>A | ENSP00000490120.1:n.*1624G>A | |
| ENST00000638092.1:n.1632G>A | ||
| ENST00000638115.1:c.*2873G>A | ENSP00000490296.1:n.*2873G>A | |
| ENST00000273588.7:c.1112G>A | ENSP00000273588.3:p.Arg371His | |
| ENST00000395338.6:c.1112G>A | ENSP00000378747.2:p.Arg371His | |
| ENST00000399379.6:c.*892G>A | ENSP00000399943.1:n.*892G>A | |
| ENST00000427987.5:c.1104G>A | ||
| ENST00000458307.6:c.980G>A | ENSP00000415619.2:p.Arg327His | |
| ENST00000465925.5:n.2410G>A | ||
| ENST00000476127.5:n.871G>A | ||
| ENST00000476226.5:n.1177G>A | ||
| ENST00000495436.5:n.733G>A | ||
| ENST00000538581.5:c.944G>A | ENSP00000443200.1:p.Arg315His | |
| NM_000481.3:c.1112G>A , LRG_537t1:c.1112G>A | NP_000472.2:p.Arg371His | |
| NM_001164710.1:c.980G>A | NP_001158182.1:p.Arg327His | |
| NM_001164711.1:c.944G>A | NP_001158183.1:p.Arg315His | |
| NM_001164712.1:c.1112G>A | NP_001158184.1:p.Arg371His | |
| NR_028435.1:n.1326G>A | ||
| NM_000481.4:c.1112G>A MANE Select | NP_000472.2:p.Arg371His | |
| NM_001164710.2:c.980G>A | NP_001158182.1:p.Arg327His | |
| NM_001164711.2:c.944G>A | NP_001158183.1:p.Arg315His | |
| NM_001164712.2:c.1112G>A | NP_001158184.1:p.Arg371His | |
| NR_028435.2:n.1121G>A |