Linked Data
dbSNP Id:
rs766330870
ExAC:
12:88582635 A / G
gnomAD v2:
12-88582635-A-G
gnomAD v3:
12-88188858-A-G
gnomAD v4:
12-88188858-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88188858A>G , CM000674.2:g.88188858A>G | GRCh38 |
| NC_000012.11:g.88582635A>G , CM000674.1:g.88582635A>G | GRCh37 |
| NC_000012.10:g.87106766A>G | NCBI36 |
| NG_021187.1:g.51563A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266712.11:c.1448A>G MANE Select | ENSP00000266712.6:p.His483Arg | |
| ENST00000266712.10:c.1448A>G | ENSP00000266712.6:p.His483Arg | |
| ENST00000547034.5:c.*351A>G | ENSP00000448733.1:n.*351A>G | |
| NM_181783.3:c.1448A>G | NP_861448.2:p.His483Arg | |
| XM_005268683.3:c.302A>G | XP_005268740.1:p.His101Arg | |
| XM_011537980.1:c.1229A>G | XP_011536282.1:p.His410Arg | |
| XM_011537981.1:c.215A>G | XP_011536283.1:p.His72Arg | |
| NM_001366574.1:c.1268A>G | NP_001353503.1:p.His423Arg | |
| NM_001366579.1:c.1229A>G | NP_001353508.1:p.His410Arg | |
| NM_001366580.1:c.1181A>G | NP_001353509.1:p.His394Arg | |
| NM_001366583.1:c.755A>G | NP_001353512.1:p.His252Arg | |
| NR_159381.1:n.1781A>G | ||
| NM_181783.4:c.1448A>G MANE Select | NP_861448.2:p.His483Arg |