Linked Data
ClinVar Variation Id:
65243
dbSNP Id:
rs397515177
gnomAD v4:
16-2086741-A-G
PubMed:
PMID:29610387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2086741A>G , CM000678.2:g.2086741A>G | GRCh38 |
| NC_000016.9:g.2136742A>G , CM000678.1:g.2136742A>G | GRCh37 |
| NC_000016.8:g.2076743A>G | NCBI36 |
| NG_005895.1:g.42436A>G , LRG_487:g.42436A>G | |
| NG_008617.1:g.56480T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3208A>G | ENSP00000455997.2:n.*3208A>G | |
| ENST00000642206.2:c.4706A>G | ENSP00000495146.2:p.His1569Arg | |
| ENST00000642365.2:c.4856A>G | ENSP00000495459.2:p.His1619Arg | |
| ENST00000644417.2:c.*5372A>G | ENSP00000493912.2:n.*5372A>G | |
| ENST00000646464.2:c.*7608A>G | ENSP00000496610.2:n.*7608A>G | |
| ENST00000219476.9:c.4859A>G MANE Select | ENSP00000219476.3:p.His1620Arg | |
| ENST00000350773.9:c.4790A>G | ENSP00000344383.4:p.His1597Arg | |
| ENST00000401874.7:c.4658A>G | ENSP00000384468.2:p.His1553Arg | |
| ENST00000568454.6:c.4691A>G | ENSP00000454487.1:p.His1564Arg | |
| ENST00000569110.2:c.1082A>G | ||
| ENST00000569930.2:n.2741A>G | ||
| ENST00000642365.1:c.3513A>G | ||
| ENST00000642561.1:c.4730A>G | ENSP00000495099.1:p.His1577Arg | |
| ENST00000642728.1:n.1041A>G | ||
| ENST00000642791.1:n.456A>G | ||
| ENST00000642797.1:c.4661A>G | ENSP00000493846.1:p.His1554Arg | |
| ENST00000642936.1:c.4727A>G | ENSP00000494514.1:p.His1576Arg | |
| ENST00000643088.1:c.4652A>G | ENSP00000494747.1:p.His1551Arg | |
| ENST00000643177.1:n.873A>G | ||
| ENST00000643426.1:n.2507A>G | ||
| ENST00000643946.1:c.4784A>G | ENSP00000495927.1:p.His1595Arg | |
| ENST00000644043.1:c.4730A>G | ENSP00000496262.1:p.His1577Arg | |
| ENST00000644278.1:n.341A>G | ||
| ENST00000644329.1:c.4658A>G | ENSP00000496611.1:p.His1553Arg | |
| ENST00000644335.1:c.4655A>G | ENSP00000496317.1:p.His1552Arg | |
| ENST00000644399.1:c.4780A>G | ||
| ENST00000645024.1:n.2943A>G | ||
| ENST00000646388.1:c.4853A>G | ENSP00000495921.1:p.His1618Arg | |
| ENST00000646557.1:n.20A>G | ||
| ENST00000646634.1:n.3674A>G | ||
| ENST00000646674.1:n.2111A>G | ||
| ENST00000647042.1:n.2082A>G | ||
| ENST00000647180.1:n.1972A>G | ||
| ENST00000219476.7:c.4859A>G | ENSP00000219476.3:p.His1620Arg | |
| ENST00000350773.8:c.4790A>G | ENSP00000344383.4:p.His1597Arg | |
| ENST00000382538.10:c.4514A>G | ENSP00000371978.6:p.His1505Arg | |
| ENST00000401874.6:c.4658A>G | ENSP00000384468.2:p.His1553Arg | |
| ENST00000439117.6:c.*4026A>G | ENSP00000406980.2:n.*4026A>G | |
| ENST00000439673.6:c.4550A>G | ENSP00000399232.2:p.His1517Arg | |
| ENST00000497886.5:n.2608-26A>G | ||
| ENST00000568454.5:c.4691A>G | ENSP00000454487.1:p.His1564Arg | |
| ENST00000569110.1:c.1041A>G | ||
| ENST00000569930.1:n.1974A>G | ||
| NM_000548.3:c.4859A>G , LRG_487t1:c.4859A>G | NP_000539.2:p.His1620Arg | |
| NM_001077183.1:c.4658A>G | NP_001070651.1:p.His1553Arg | |
| NM_001114382.1:c.4790A>G | NP_001107854.1:p.His1597Arg | |
| XM_005255529.3:c.4730A>G | XP_005255586.2:p.His1577Arg | |
| XM_005255531.3:c.4661A>G | XP_005255588.2:p.His1554Arg | |
| XM_011522636.1:c.4913A>G | XP_011520938.1:p.His1638Arg | |
| XM_011522637.1:c.4910A>G | XP_011520939.1:p.His1637Arg | |
| XM_011522638.1:c.4802A>G | XP_011520940.1:p.His1601Arg | |
| XM_011522639.1:c.4784A>G | XP_011520941.1:p.His1595Arg | |
| XM_011522640.1:c.4781A>G | XP_011520942.1:p.His1594Arg | |
| XM_011522641.1:c.4550A>G | XP_011520943.1:p.His1517Arg | |
| NM_000548.4:c.4859A>G | NP_000539.2:p.His1620Arg | |
| NM_001077183.2:c.4658A>G | NP_001070651.1:p.His1553Arg | |
| NM_001114382.2:c.4790A>G | NP_001107854.1:p.His1597Arg | |
| NM_001318827.1:c.4550A>G | NP_001305756.1:p.His1517Arg | |
| NM_001318829.1:c.4514A>G | NP_001305758.1:p.His1505Arg | |
| NM_001318831.1:c.4127A>G | NP_001305760.1:p.His1376Arg | |
| NM_001318832.1:c.4691A>G | NP_001305761.1:p.His1564Arg | |
| NM_001363528.1:c.4661A>G | NP_001350457.1:p.His1554Arg | |
| NM_021055.2:c.4730A>G | NP_066399.2:p.His1577Arg | |
| XM_005255531.4:c.4661A>G | XP_005255588.2:p.His1554Arg | |
| XM_011522636.2:c.4913A>G | XP_011520938.1:p.His1638Arg | |
| XM_011522637.2:c.4910A>G | XP_011520939.1:p.His1637Arg | |
| XM_011522638.2:c.5075A>G | XP_011520940.2:p.His1692Arg | |
| XM_011522639.2:c.4784A>G | XP_011520941.1:p.His1595Arg | |
| XM_011522640.2:c.4781A>G | XP_011520942.1:p.His1594Arg | |
| XM_017023615.1:c.4856A>G | XP_016879104.1:p.His1619Arg | |
| XM_017023616.1:c.4727A>G | XP_016879105.1:p.His1576Arg | |
| XM_017023617.1:c.4823A>G | XP_016879106.1:p.His1608Arg | |
| XM_017023618.1:c.3569A>G | XP_016879107.1:p.His1190Arg | |
| XM_024450413.1:c.4658A>G | XP_024306181.1:p.His1553Arg | |
| NM_000548.5:c.4859A>G MANE Select | NP_000539.2:p.His1620Arg | |
| NM_001370404.1:c.4727A>G | NP_001357333.1:p.His1576Arg | |
| NM_001370405.1:c.4730A>G | NP_001357334.1:p.His1577Arg | |
| NM_001077183.3:c.4658A>G | NP_001070651.1:p.His1553Arg | |
| NM_001114382.3:c.4790A>G | NP_001107854.1:p.His1597Arg | |
| NM_001318827.2:c.4550A>G | NP_001305756.1:p.His1517Arg | |
| NM_001318829.2:c.4514A>G | NP_001305758.1:p.His1505Arg | |
| NM_001318831.2:c.4127A>G | NP_001305760.1:p.His1376Arg | |
| NM_001318832.2:c.4691A>G | NP_001305761.1:p.His1564Arg | |
| NM_001363528.2:c.4661A>G | NP_001350457.1:p.His1554Arg | |
| NM_021055.3:c.4730A>G | NP_066399.2:p.His1577Arg |