Linked Data
dbSNP Id:
rs756910475
ExAC:
1:67724501 A / G
gnomAD v2:
1-67724501-A-G
gnomAD v4:
1-67258818-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67258818A>G , CM000663.2:g.67258818A>G | GRCh38 |
| NC_000001.10:g.67724501A>G , CM000663.1:g.67724501A>G | GRCh37 |
| NC_000001.9:g.67497089A>G | NCBI36 |
| NG_011498.1:g.97333A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697149.1:c.1419A>G | ENSP00000513138.1:n.1419A>G | |
| ENST00000697150.1:c.1477A>G | ENSP00000513139.1:n.1477A>G | |
| ENST00000697151.1:c.1410A>G | ENSP00000513140.1:n.1410A>G | |
| ENST00000697164.1:c.1490A>G | ENSP00000513153.1:p.His497Arg | |
| ENST00000697165.1:c.1277A>G | ENSP00000513154.1:p.His426Arg | |
| ENST00000347310.10:c.1580A>G MANE Select | ENSP00000321345.5:p.His527Arg | |
| ENST00000637002.1:c.971A>G | ENSP00000490340.1:p.His324Arg | |
| ENST00000347310.9:c.1580A>G | ENSP00000321345.5:p.His527Arg | |
| ENST00000395227.2:c.374A>G | ENSP00000378652.2:p.His125Arg | |
| ENST00000425614.3:c.815A>G | ENSP00000387640.2:p.His272Arg | |
| ENST00000473881.2:c.*406A>G | ENSP00000486667.1:n.*406A>G | |
| NM_144701.2:c.1580A>G | NP_653302.2:p.His527Arg | |
| XM_005270516.2:c.818A>G | XP_005270573.1:p.His273Arg | |
| XM_011540789.1:c.1670A>G | XP_011539091.1:p.His557Arg | |
| XM_011540790.1:c.1580A>G | XP_011539092.1:p.His527Arg | |
| XM_011540791.1:c.1580A>G | XP_011539093.1:p.His527Arg | |
| XM_011540790.3:c.1580A>G | XP_011539092.1:p.His527Arg | |
| XM_011540791.3:c.1580A>G | XP_011539093.1:p.His527Arg | |
| XR_001736993.1:n.1660A>G | ||
| NM_144701.3:c.1580A>G MANE Select | NP_653302.2:p.His527Arg |