Linked Data
ClinVar Variation Id:
11979
dbSNP Id:
rs121964985
ExAC:
3:49455325 C / T
gnomAD v2:
3-49455325-C-T
gnomAD v3:
3-49417892-C-T
gnomAD v4:
3-49417892-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49417892C>T , CM000665.2:g.49417892C>T | GRCh38 |
| NC_000003.11:g.49455325C>T , CM000665.1:g.49455325C>T | GRCh37 |
| NC_000003.10:g.49430329C>T | NCBI36 |
| NG_015986.1:g.9787G>A , LRG_537:g.9787G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273588.9:c.959G>A MANE Select | ENSP00000273588.3:p.Arg320His | |
| ENST00000395338.7:c.959G>A | ENSP00000378747.2:p.Arg320His | |
| ENST00000399379.7:c.691G>A | ENSP00000399943.2:n.691G>A | |
| ENST00000427987.6:c.815G>A | ENSP00000403821.2:p.Arg272His | |
| ENST00000465925.6:n.2961G>A | ||
| ENST00000473163.2:n.3575G>A | ||
| ENST00000476127.6:n.1188G>A | ||
| ENST00000476226.6:n.1380G>A | ||
| ENST00000478594.6:n.1386G>A | ||
| ENST00000493046.6:n.2750-174G>A | ||
| ENST00000538581.6:c.815G>A | ENSP00000443200.2:p.Arg272His | |
| ENST00000635772.1:n.1797G>A | ||
| ENST00000635798.1:n.392-174G>A | ||
| ENST00000635808.1:c.878G>A | ENSP00000489620.1:p.Arg293His | |
| ENST00000635889.1:n.1452G>A | ||
| ENST00000635907.1:n.592-174G>A | ||
| ENST00000635936.1:n.1227G>A | ||
| ENST00000636023.1:c.*132G>A | ENSP00000489969.1:n.*132G>A | |
| ENST00000636070.1:c.*739G>A | ENSP00000490160.1:n.*739G>A | |
| ENST00000636148.1:n.3012G>A | ||
| ENST00000636166.1:c.1196G>A | ENSP00000490106.1:p.Arg399His | |
| ENST00000636188.1:c.138G>A | ||
| ENST00000636199.1:c.521G>A | ENSP00000490871.1:p.Arg174His | |
| ENST00000636204.1:n.2241G>A | ||
| ENST00000636461.1:c.4493G>A | ||
| ENST00000636522.1:c.791G>A | ENSP00000489758.1:p.Arg264His | |
| ENST00000636587.1:n.1045G>A | ||
| ENST00000636594.1:n.481G>A | ||
| ENST00000636597.1:c.551-174G>A | ENSP00000490251.1:n.551-174G>A | |
| ENST00000636725.1:n.1675G>A | ||
| ENST00000636803.1:n.1301G>A | ||
| ENST00000636865.1:c.803G>A | ENSP00000490601.1:p.Arg268His | |
| ENST00000636871.1:n.1324G>A | ||
| ENST00000636978.1:n.1071G>A | ||
| ENST00000636991.1:n.1404G>A | ||
| ENST00000637059.1:c.411G>A | ENSP00000490153.1:n.411G>A | |
| ENST00000637088.1:n.5771G>A | ||
| ENST00000637114.1:n.1059G>A | ||
| ENST00000637268.1:n.1860G>A | ||
| ENST00000637291.1:n.1693G>A | ||
| ENST00000637442.1:n.3180G>A | ||
| ENST00000637455.1:c.770G>A | ENSP00000489628.1:p.Arg257His | |
| ENST00000637457.1:n.1820G>A | ||
| ENST00000637527.1:n.251G>A | ||
| ENST00000637682.1:c.878-174G>A | ENSP00000489856.1:n.878-174G>A | |
| ENST00000637684.1:n.1169G>A | ||
| ENST00000637821.1:c.*1228+41G>A | ENSP00000490482.1:n.*1228+41G>A | |
| ENST00000637914.1:n.2853G>A | ||
| ENST00000637982.1:n.1373G>A | ||
| ENST00000637994.1:n.1499G>A | ||
| ENST00000638014.1:c.3740G>A | ||
| ENST00000638063.1:c.878G>A | ENSP00000489760.1:p.Arg293His | |
| ENST00000638079.1:c.*1471G>A | ENSP00000490120.1:n.*1471G>A | |
| ENST00000638092.1:n.1479G>A | ||
| ENST00000638115.1:c.*2720G>A | ENSP00000490296.1:n.*2720G>A | |
| ENST00000273588.7:c.959G>A | ENSP00000273588.3:p.Arg320His | |
| ENST00000395338.6:c.959G>A | ENSP00000378747.2:p.Arg320His | |
| ENST00000399379.6:c.*739G>A | ENSP00000399943.1:n.*739G>A | |
| ENST00000427987.5:c.951G>A | ||
| ENST00000458307.6:c.827G>A | ENSP00000415619.2:p.Arg276His | |
| ENST00000465925.5:n.2257G>A | ||
| ENST00000473163.1:n.328G>A | ||
| ENST00000476127.5:n.718G>A | ||
| ENST00000476226.5:n.1024G>A | ||
| ENST00000495436.5:n.655-174G>A | ||
| ENST00000538581.5:c.791G>A | ENSP00000443200.1:p.Arg264His | |
| NM_000481.3:c.959G>A , LRG_537t1:c.959G>A | NP_000472.2:p.Arg320His | |
| NM_001164710.1:c.827G>A | NP_001158182.1:p.Arg276His | |
| NM_001164711.1:c.791G>A | NP_001158183.1:p.Arg264His | |
| NM_001164712.1:c.959G>A | NP_001158184.1:p.Arg320His | |
| NR_028435.1:n.1173G>A | ||
| NM_000481.4:c.959G>A MANE Select | NP_000472.2:p.Arg320His | |
| NM_001164710.2:c.827G>A | NP_001158182.1:p.Arg276His | |
| NM_001164711.2:c.791G>A | NP_001158183.1:p.Arg264His | |
| NM_001164712.2:c.959G>A | NP_001158184.1:p.Arg320His | |
| NR_028435.2:n.968G>A |