Linked Data
dbSNP Id:
rs1488722147
gnomAD v2:
9-138662287-A-G
gnomAD v3:
9-135770441-A-G
gnomAD v4:
9-135770441-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135770441A>G , CM000671.2:g.135770441A>G | GRCh38 |
| NC_000009.11:g.138662287A>G , CM000671.1:g.138662287A>G | GRCh37 |
| NC_000009.10:g.137802108A>G | NCBI36 |
| NG_033070.1:g.73257A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1763A>G MANE Select | ENSP00000360822.2:p.His588Arg | |
| ENST00000674572.1:c.1604A>G | ENSP00000501742.1:p.His535Arg | |
| ENST00000675090.1:c.1511A>G | ENSP00000501833.1:p.His504Arg | |
| ENST00000675399.1:c.1511A>G | ENSP00000501932.1:p.His504Arg | |
| ENST00000676421.1:c.1520A>G | ENSP00000502322.1:p.His507Arg | |
| ENST00000263604.5:c.1664A>G | ENSP00000263604.4:p.His555Arg | |
| ENST00000371757.6:c.1763A>G | ENSP00000360822.2:p.His588Arg | |
| ENST00000460750.5:c.*1373A>G | ENSP00000418777.1:n.*1373A>G | |
| ENST00000486577.6:c.1646A>G | ENSP00000417578.3:p.His549Arg | |
| ENST00000487664.5:c.1763A>G | ENSP00000417851.2:p.His588Arg | |
| ENST00000488444.6:c.1706A>G | ENSP00000419007.3:p.His569Arg | |
| ENST00000490355.6:c.1706A>G | ENSP00000418003.3:p.His569Arg | |
| ENST00000490363.3:n.1582A>G | ||
| ENST00000491806.6:c.1706A>G | ENSP00000419086.3:p.His569Arg | |
| ENST00000628528.2:c.1628A>G | ENSP00000486374.1:p.His543Arg | |
| ENST00000630792.2:c.1604A>G | ENSP00000486486.1:p.His535Arg | |
| ENST00000631073.2:c.1706A>G | ENSP00000486130.1:p.His569Arg | |
| NM_001272003.1:c.1628A>G | NP_001258932.1:p.His543Arg | |
| NM_020822.2:c.1763A>G | NP_065873.2:p.His588Arg | |
| XM_011518877.1:c.1898A>G | XP_011517179.1:p.His633Arg | |
| XM_011518878.1:c.1907A>G | XP_011517180.1:p.His636Arg | |
| XM_011518879.1:c.1898A>G | XP_011517181.1:p.His633Arg | |
| XM_011518880.1:c.1664A>G | XP_011517182.1:p.His555Arg | |
| XM_011518881.1:c.1253A>G | XP_011517183.1:p.His418Arg | |
| XM_011518877.3:c.1898A>G | XP_011517179.1:p.His633Arg | |
| XM_011518878.3:c.1907A>G | XP_011517180.1:p.His636Arg | |
| XM_011518879.3:c.1898A>G | XP_011517181.1:p.His633Arg | |
| XM_011518881.3:c.1253A>G | XP_011517183.1:p.His418Arg | |
| XM_017014931.1:c.1697A>G | XP_016870420.1:p.His566Arg | |
| XM_017014932.1:c.1520A>G | XP_016870421.1:p.His507Arg | |
| XM_017014933.1:c.1253A>G | XP_016870422.1:p.His418Arg | |
| XM_024447617.1:c.1253A>G | XP_024303385.1:p.His418Arg | |
| XM_024447618.1:c.1253A>G | XP_024303386.1:p.His418Arg | |
| NM_020822.3:c.1763A>G MANE Select | NP_065873.2:p.His588Arg | |
| NM_001272003.2:c.1628A>G | NP_001258932.1:p.His543Arg |