ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003178 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00003085 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.11815120G>A , CM000664.2:g.11815120G>A | GRCh38 |
| NC_000002.11:g.11955246G>A , CM000664.1:g.11955246G>A | GRCh37 |
| NC_000002.10:g.11872697G>A | NCBI36 |
| NG_012843.2:g.142542G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674199.1:c.2282G>A MANE Select | ENSP00000501331.1:p.Arg761His | |
| ENST00000256720.6:c.2174G>A | ENSP00000256720.2:p.Arg725His | |
| ENST00000396097.5:c.2300G>A | ENSP00000379404.2:p.Arg767His | |
| ENST00000396099.5:c.*189G>A | ENSP00000379406.2:n.*189G>A | |
| ENST00000404113.6:n.1767G>A | ||
| ENST00000425416.6:c.2192G>A | ENSP00000401522.2:p.Arg731His | |
| ENST00000449576.6:c.2429G>A | ENSP00000397908.2:p.Arg810His | |
| NM_001261427.1:c.2192G>A | NP_001248356.1:p.Arg731His | |
| NM_001261428.1:c.2429G>A | NP_001248357.1:p.Arg810His | |
| NM_145693.2:c.2174G>A | NP_663731.1:p.Arg725His | |
| XM_006711869.1:c.2321G>A | XP_006711932.1:p.Arg774His | |
| XM_006711870.2:c.2300G>A | XP_006711933.1:p.Arg767His | |
| XM_006711871.1:c.2282G>A | XP_006711934.1:p.Arg761His | |
| XM_006711872.1:c.2282G>A | XP_006711935.1:p.Arg761His | |
| XM_006711874.1:c.2282G>A | XP_006711937.1:p.Arg761His | |
| XM_011510333.1:c.2426G>A | XP_011508635.1:p.Arg809His | |
| XM_011510334.1:c.2300G>A | XP_011508636.1:p.Arg767His | |
| XM_011510335.1:c.2282G>A | XP_011508637.1:p.Arg761His | |
| XM_011510336.1:c.2282G>A | XP_011508638.1:p.Arg761His | |
| NM_001261427.2:c.2192G>A | NP_001248356.1:p.Arg731His | |
| NM_001261428.2:c.2429G>A | NP_001248357.1:p.Arg810His | |
| NM_001349199.1:c.2174G>A | NP_001336128.1:p.Arg725His | |
| NM_001349200.1:c.2252G>A | NP_001336129.1:p.Arg751His | |
| NM_001349201.1:c.2252G>A | NP_001336130.1:p.Arg751His | |
| NM_001349202.1:c.2279G>A | NP_001336131.1:p.Arg760His | |
| NM_001349203.1:c.2279G>A | NP_001336132.1:p.Arg760His | |
| NM_001349204.1:c.2282G>A | NP_001336133.1:p.Arg761His | |
| NM_001349205.1:c.2282G>A | NP_001336134.1:p.Arg761His | |
| NM_001349206.1:c.2282G>A | NP_001336135.1:p.Arg761His | |
| NM_001349207.1:c.2372G>A | NP_001336136.1:p.Arg791His | |
| NM_001349208.1:c.2321G>A | NP_001336137.1:p.Arg774His | |
| NM_145693.3:c.2174G>A | NP_663731.1:p.Arg725His | |
| NR_146080.1:n.2270G>A | ||
| XM_006711870.4:c.2300G>A | XP_006711933.1:p.Arg767His | |
| XM_006711872.3:c.2282G>A | XP_006711935.1:p.Arg761His | |
| XM_011510333.2:c.2426G>A | XP_011508635.1:p.Arg809His | |
| XM_011510334.3:c.2300G>A | XP_011508636.1:p.Arg767His | |
| XM_011510335.3:c.2282G>A | XP_011508637.1:p.Arg761His | |
| XM_011510336.3:c.2282G>A | XP_011508638.1:p.Arg761His | |
| XM_017003623.2:c.2351G>A | XP_016859112.1:p.Arg784His | |
| XM_017003624.2:c.2282G>A | XP_016859113.1:p.Arg761His | |
| XM_017003625.2:c.2282G>A | XP_016859114.1:p.Arg761His | |
| XM_017003627.2:c.2279G>A | XP_016859116.1:p.Arg760His | |
| XM_017003628.2:c.2174G>A | XP_016859117.1:p.Arg725His | |
| XM_017003629.1:c.2174G>A | XP_016859118.1:p.Arg725His | |
| XM_017003630.2:c.2174G>A | XP_016859119.1:p.Arg725His | |
| XM_024452762.1:c.2282G>A | XP_024308530.1:p.Arg761His | |
| XM_024452763.1:c.2192G>A | XP_024308531.1:p.Arg731His | |
| NM_001261428.3:c.2429G>A | NP_001248357.1:p.Arg810His | |
| NM_001349199.2:c.2174G>A | NP_001336128.1:p.Arg725His | |
| NM_001349200.2:c.2252G>A | NP_001336129.1:p.Arg751His | |
| NM_001349201.2:c.2252G>A | NP_001336130.1:p.Arg751His | |
| NM_001349202.2:c.2279G>A | NP_001336131.1:p.Arg760His | |
| NM_001349203.2:c.2279G>A | NP_001336132.1:p.Arg760His | |
| NM_001349204.2:c.2282G>A | NP_001336133.1:p.Arg761His | |
| NM_001349206.2:c.2282G>A MANE Select | NP_001336135.1:p.Arg761His | |
| NM_001349207.2:c.2372G>A | NP_001336136.1:p.Arg791His | |
| NM_001349208.2:c.2321G>A | NP_001336137.1:p.Arg774His | |
| NM_145693.4:c.2174G>A | NP_663731.1:p.Arg725His | |
| NR_146080.2:n.2223G>A | ||
| NM_001261427.3:c.2192G>A | NP_001248356.1:p.Arg731His | |
| NM_001349205.2:c.2282G>A | NP_001336134.1:p.Arg761His |