Linked Data
ClinVar Variation Id:
1698041
ClinVar RCV Id:
RCV002269464
dbSNP Id:
rs753979244
ExAC:
1:78401725 A / G
gnomAD v2:
1-78401725-A-G
gnomAD v3:
1-77936040-A-G
gnomAD v4:
1-77936040-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77936040A>G , CM000663.2:g.77936040A>G | GRCh38 |
| NC_000001.10:g.78401725A>G , CM000663.1:g.78401725A>G | GRCh37 |
| NC_000001.9:g.78174313A>G | NCBI36 |
| NG_016625.1:g.52526A>G , LRG_442:g.52526A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1469A>G MANE Select | ENSP00000333938.7:p.His490Arg | |
| ENST00000330010.12:c.1277A>G | ENSP00000327363.8:p.His426Arg | |
| ENST00000334785.11:c.1469A>G | ENSP00000333938.7:p.His490Arg | |
| ENST00000342754.5:c.1168A>G | ||
| ENST00000480732.2:n.1043A>G | ||
| NM_001172309.1:c.1277A>G | NP_001165780.1:p.His426Arg | |
| NM_144573.3:c.1469A>G , LRG_442t1:c.1469A>G | NP_653174.3:p.His490Arg | |
| XM_005271322.2:c.1469A>G | XP_005271379.1:p.His490Arg | |
| XM_005271323.2:c.1427A>G | XP_005271380.1:p.His476Arg | |
| XM_005271324.3:c.1277A>G | XP_005271381.1:p.His426Arg | |
| XM_005271325.2:c.1251+2561A>G | XP_005271382.1:n.1251+2561A>G | |
| XM_005271326.2:c.1235A>G | XP_005271383.1:p.His412Arg | |
| XM_005271327.2:c.1052A>G | XP_005271384.1:p.His351Arg | |
| XM_005271322.4:c.1469A>G | XP_005271379.1:p.His490Arg | |
| XM_005271323.4:c.1427A>G | XP_005271380.1:p.His476Arg | |
| XM_005271324.5:c.1277A>G | XP_005271381.1:p.His426Arg | |
| XM_005271325.4:c.1251+2561A>G | XP_005271382.1:n.1251+2561A>G | |
| XM_005271326.4:c.1235A>G | XP_005271383.1:p.His412Arg | |
| XM_005271327.4:c.1052A>G | XP_005271384.1:p.His351Arg | |
| NM_001172309.2:c.1277A>G | NP_001165780.1:p.His426Arg | |
| NM_144573.4:c.1469A>G MANE Select | NP_653174.3:p.His490Arg |