Linked Data
dbSNP Id:
rs10462021
ExAC:
1:7897133 A / G
gnomAD v2:
1-7897133-A-G
gnomAD v3:
1-7837073-A-G
gnomAD v4:
1-7837073-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7837073A>G , CM000663.2:g.7837073A>G | GRCh38 |
| NC_000001.10:g.7897133A>G , CM000663.1:g.7897133A>G | GRCh37 |
| NC_000001.9:g.7819720A>G | NCBI36 |
| NG_046850.1:g.57694A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377532.8:c.3473A>G MANE Select | ENSP00000366755.3:p.His1158Arg | |
| ENST00000361923.2:c.3446A>G | ENSP00000355031.2:p.His1149Arg | |
| ENST00000377532.7:c.3473A>G | ENSP00000366755.3:p.His1158Arg | |
| ENST00000494684.1:n.266A>G | ||
| ENST00000613533.4:c.3473A>G | ENSP00000482093.1:p.His1158Arg | |
| ENST00000614998.4:c.3416A>G | ENSP00000479223.1:p.His1139Arg | |
| NM_001289861.1:c.3416A>G | NP_001276790.1:p.His1139Arg | |
| NM_001289862.1:c.3473A>G | NP_001276791.1:p.His1158Arg | |
| NM_001289863.1:c.3395A>G | NP_001276792.1:p.His1132Arg | |
| NM_001289864.1:c.2513A>G | NP_001276793.1:p.His838Arg | |
| NM_016831.2:c.3446A>G | NP_058515.1:p.His1149Arg | |
| XM_005263521.2:c.3470A>G | XP_005263578.1:p.His1157Arg | |
| XM_005263522.2:c.3470A>G | XP_005263579.1:p.His1157Arg | |
| XM_005263523.2:c.3452A>G | XP_005263580.1:p.His1151Arg | |
| XM_005263524.2:c.3473A>G | XP_005263581.1:p.His1158Arg | |
| XM_005263529.2:c.2948A>G | XP_005263586.1:p.His983Arg | |
| XM_011542384.1:c.3473A>G | XP_011540686.1:p.His1158Arg | |
| XM_011542385.1:c.3470A>G | XP_011540687.1:p.His1157Arg | |
| XM_011542386.1:c.3449A>G | XP_011540688.1:p.His1150Arg | |
| XM_011542387.1:c.3305A>G | XP_011540689.1:p.His1102Arg | |
| XM_011542388.1:c.3125A>G | XP_011540690.1:p.His1042Arg | |
| XM_011542389.1:c.3110A>G | XP_011540691.1:p.His1037Arg | |
| XM_011542390.1:c.3449A>G | XP_011540692.1:p.His1150Arg | |
| XM_005263524.4:c.3473A>G | XP_005263581.1:p.His1158Arg | |
| XM_017002723.2:c.3470A>G | XP_016858212.1:p.His1157Arg | |
| XM_017002724.2:c.3467A>G | XP_016858213.1:p.His1156Arg | |
| XM_017002726.2:c.3449A>G | XP_016858215.1:p.His1150Arg | |
| XM_017002727.1:c.3305A>G | XP_016858216.1:p.His1102Arg | |
| XM_017002728.1:c.3125A>G | XP_016858217.1:p.His1042Arg | |
| XM_017002729.1:c.3110A>G | XP_016858218.1:p.His1037Arg | |
| XM_017002730.2:c.3122A>G | XP_016858219.1:p.His1041Arg | |
| XM_017002731.2:c.3101A>G | XP_016858220.1:p.His1034Arg | |
| XM_017002732.1:c.3104A>G | XP_016858221.1:p.His1035Arg | |
| XM_017002733.2:c.2948A>G | XP_016858222.1:p.His983Arg | |
| XM_017002734.1:c.2948A>G | XP_016858223.1:p.His983Arg | |
| XM_017002735.2:c.2945A>G | XP_016858224.1:p.His982Arg | |
| XM_017002737.1:c.2081A>G | XP_016858226.1:p.His694Arg | |
| XM_017002738.2:c.2078A>G | XP_016858227.1:p.His693Arg | |
| XM_024450585.1:c.3473A>G | XP_024306353.1:p.His1158Arg | |
| XM_024450586.1:c.3470A>G | XP_024306354.1:p.His1157Arg | |
| XM_024450587.1:c.3452A>G | XP_024306355.1:p.His1151Arg | |
| XM_024450588.1:c.3449A>G | XP_024306356.1:p.His1150Arg | |
| XM_024450590.1:c.3446A>G | XP_024306358.1:p.His1149Arg | |
| XM_024450611.1:c.2927A>G | XP_024306379.1:p.His976Arg | |
| XM_024450612.1:c.2924A>G | XP_024306380.1:p.His975Arg | |
| NM_001289861.2:c.3416A>G | NP_001276790.1:p.His1139Arg | |
| NM_001289862.2:c.3473A>G | NP_001276791.1:p.His1158Arg | |
| NM_001289863.3:c.3395A>G | NP_001276792.1:p.His1132Arg | |
| NM_001289864.3:c.2513A>G | NP_001276793.1:p.His838Arg | |
| NM_001377275.1:c.3473A>G MANE Select | NP_001364204.1:p.His1158Arg | |
| NM_001377276.1:c.3449A>G | NP_001364205.1:p.His1150Arg | |
| NM_016831.4:c.3446A>G | NP_058515.1:p.His1149Arg |