Linked Data
dbSNP Id:
rs769234858
gnomAD v2:
1-7812578-G-A
gnomAD v3:
1-7752518-G-A
gnomAD v4:
1-7752518-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7752518G>A , CM000663.2:g.7752518G>A | GRCh38 |
| NC_000001.10:g.7812578G>A , CM000663.1:g.7812578G>A | GRCh37 |
| NC_000001.9:g.7735165G>A | NCBI36 |
| NG_053148.1:g.972195G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710284.1:c.1697G>A | ENSP00000518174.1:p.Arg566His | |
| ENST00000710285.1:c.2036G>A | ENSP00000518175.1:p.Arg679His | |
| ENST00000476864.2:c.4604G>A | ENSP00000452319.2:p.Arg1535His | |
| ENST00000495233.6:c.2265G>A | ||
| ENST00000700414.1:c.*4476G>A | ENSP00000514978.1:n.*4476G>A | |
| ENST00000700415.1:c.4535G>A | ENSP00000514979.1:p.Arg1512His | |
| ENST00000700417.1:c.4532G>A | ENSP00000514981.1:p.Arg1511His | |
| ENST00000700419.1:c.2789G>A | ENSP00000514983.1:p.Arg930His | |
| ENST00000700420.1:c.1994G>A | ENSP00000514994.1:p.Arg665His | |
| ENST00000700421.1:c.2015G>A | ENSP00000514995.1:p.Arg672His | |
| ENST00000700422.1:n.1117G>A | ||
| ENST00000700423.1:c.1697G>A | ENSP00000514996.1:p.Arg566His | |
| ENST00000700424.1:c.1697G>A | ENSP00000514997.1:p.Arg566His | |
| ENST00000700425.1:c.1655G>A | ENSP00000514998.1:p.Arg552His | |
| ENST00000700445.1:c.2289G>A | ||
| ENST00000700446.1:n.3339G>A | ||
| ENST00000700447.1:n.2623G>A | ||
| ENST00000700448.1:c.627G>A | ||
| ENST00000700449.1:c.147G>A | ||
| ENST00000303635.12:c.4943G>A MANE Select | ENSP00000306522.6:p.Arg1648His | |
| ENST00000303635.11:c.4943G>A | ENSP00000306522.6:p.Arg1648His | |
| ENST00000476864.1:c.635G>A | ENSP00000452319.1:p.Arg212His | |
| ENST00000490905.5:c.640G>A | ||
| ENST00000495233.5:c.1834G>A | ||
| NM_015215.3:c.4943G>A | NP_056030.1:p.Arg1648His | |
| XM_011541083.1:c.4964G>A | XP_011539385.1:p.Arg1655His | |
| XM_011541084.1:c.4964G>A | XP_011539386.1:p.Arg1655His | |
| XM_011541085.1:c.4952G>A | XP_011539387.1:p.Arg1651His | |
| XM_011541086.1:c.4943G>A | XP_011539388.1:p.Arg1648His | |
| XM_011541087.1:c.4892G>A | XP_011539389.1:p.Arg1631His | |
| XM_011541088.1:c.4874G>A | XP_011539390.1:p.Arg1625His | |
| XM_011541089.1:c.4625G>A | XP_011539391.1:p.Arg1542His | |
| XM_011541090.1:c.4625G>A | XP_011539392.1:p.Arg1542His | |
| NM_001349608.1:c.4853G>A | NP_001336537.1:p.Arg1618His | |
| NM_001349609.1:c.4625G>A | NP_001336538.1:p.Arg1542His | |
| NM_001349610.1:c.4619G>A | NP_001336539.1:p.Arg1540His | |
| NM_001349612.1:c.4535G>A | NP_001336541.1:p.Arg1512His | |
| NM_001349613.1:c.2072G>A | NP_001336542.1:p.Arg691His | |
| NM_001349614.1:c.2036G>A | NP_001336543.1:p.Arg679His | |
| NM_001349615.1:c.2036G>A | NP_001336544.1:p.Arg679His | |
| NM_001349616.1:c.2036G>A | NP_001336545.1:p.Arg679His | |
| NM_001349617.1:c.2015G>A | NP_001336546.1:p.Arg672His | |
| NM_001349618.1:c.2015G>A | NP_001336547.1:p.Arg672His | |
| NM_001349619.1:c.1697G>A | NP_001336548.1:p.Arg566His | |
| NM_001349620.1:c.1697G>A | NP_001336549.1:p.Arg566His | |
| NM_001349621.1:c.1697G>A | NP_001336550.1:p.Arg566His | |
| NM_001349622.1:c.1697G>A | NP_001336551.1:p.Arg566His | |
| NM_001349623.1:c.1676G>A | NP_001336552.1:p.Arg559His | |
| NM_001349624.2:c.1676G>A | NP_001336553.1:p.Arg559His | |
| NM_001349625.1:c.1676G>A | NP_001336554.1:p.Arg559His | |
| NM_001349626.1:c.1676G>A | NP_001336555.1:p.Arg559His | |
| XM_011541083.2:c.4964G>A | XP_011539385.1:p.Arg1655His | |
| XM_011541084.2:c.4964G>A | XP_011539386.1:p.Arg1655His | |
| XM_011541086.3:c.4943G>A | XP_011539388.1:p.Arg1648His | |
| XM_011541087.2:c.4892G>A | XP_011539389.1:p.Arg1631His | |
| XM_011541088.2:c.4874G>A | XP_011539390.1:p.Arg1625His | |
| XM_011541090.3:c.4625G>A | XP_011539392.1:p.Arg1542His | |
| XM_017000774.2:c.4964G>A | XP_016856263.1:p.Arg1655His | |
| XM_017000777.1:c.4604G>A | XP_016856266.1:p.Arg1535His | |
| XM_017000778.1:c.4604G>A | XP_016856267.1:p.Arg1535His | |
| XM_024454329.1:c.2225G>A | XP_024310097.1:p.Arg742His | |
| XM_024454330.1:c.2204G>A | XP_024310098.1:p.Arg735His | |
| XM_024454331.1:c.2036G>A | XP_024310099.1:p.Arg679His | |
| XM_024454332.1:c.2036G>A | XP_024310100.1:p.Arg679His | |
| XM_024454333.1:c.2036G>A | XP_024310101.1:p.Arg679His | |
| XM_024454334.1:c.2036G>A | XP_024310102.1:p.Arg679His | |
| XM_024454335.1:c.2036G>A | XP_024310103.1:p.Arg679His | |
| XM_024454338.1:c.1697G>A | XP_024310106.1:p.Arg566His | |
| NM_015215.4:c.4943G>A MANE Select | NP_056030.1:p.Arg1648His | |
| NM_001349608.2:c.4853G>A | NP_001336537.1:p.Arg1618His | |
| NM_001349609.2:c.4625G>A | NP_001336538.1:p.Arg1542His | |
| NM_001349610.2:c.4619G>A | NP_001336539.1:p.Arg1540His | |
| NM_001349612.2:c.4535G>A | NP_001336541.1:p.Arg1512His | |
| NM_001349615.2:c.2036G>A | NP_001336544.1:p.Arg679His | |
| NM_001349616.2:c.2036G>A | NP_001336545.1:p.Arg679His | |
| NM_001349618.2:c.2015G>A | NP_001336547.1:p.Arg672His | |
| NM_001349619.2:c.1697G>A | NP_001336548.1:p.Arg566His | |
| NM_001349622.2:c.1697G>A | NP_001336551.1:p.Arg566His | |
| NM_001349624.3:c.1676G>A | NP_001336553.1:p.Arg559His | |
| NM_001349626.2:c.1676G>A | NP_001336555.1:p.Arg559His | |
| NM_001349625.2:c.1676G>A | NP_001336554.1:p.Arg559His |