Linked Data
ClinVar Variation Id:
575451
ClinVar RCV Id:
RCV000697671
dbSNP Id:
rs1487267563
gnomAD v4:
15-90794230-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90794230A>G , CM000677.2:g.90794230A>G | GRCh38 |
| NC_000015.9:g.91337460A>G , CM000677.1:g.91337460A>G | GRCh37 |
| NC_000015.8:g.89138464A>G | NCBI36 |
| NG_007272.1:g.81859A>G , LRG_20:g.81859A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.3083A>G MANE Select | ENSP00000347232.3:p.His1028Arg | |
| ENST00000560559.2:n.1656A>G | ||
| ENST00000648453.1:c.3083A>G | ENSP00000497646.1:p.His1028Arg | |
| ENST00000680772.1:c.3083A>G | ENSP00000506117.1:p.His1028Arg | |
| ENST00000681142.1:c.3083A>G | ENSP00000506682.1:p.His1028Arg | |
| ENST00000355112.7:c.3083A>G | ENSP00000347232.3:p.His1028Arg | |
| ENST00000558825.5:n.430A>G | ||
| ENST00000559724.5:c.*2007A>G | ENSP00000453359.1:n.*2007A>G | |
| ENST00000560136.5:n.1109A>G | ||
| ENST00000560509.5:c.3083A>G | ENSP00000454158.1:p.His1028Arg | |
| ENST00000560559.1:n.620A>G | ||
| NM_000057.3:c.3083A>G | NP_000048.1:p.His1028Arg | |
| NM_001287246.1:c.3083A>G | NP_001274175.1:p.His1028Arg | |
| NM_001287247.1:c.3083A>G | NP_001274176.1:p.His1028Arg | |
| NM_001287248.1:c.1958A>G | NP_001274177.1:p.His653Arg | |
| XM_006720632.2:c.1121A>G | XP_006720695.1:p.His374Arg | |
| XM_011521881.1:c.1769A>G | XP_011520183.1:p.His590Arg | |
| XM_011521881.2:c.1769A>G | XP_011520183.1:p.His590Arg | |
| NM_000057.4:c.3083A>G MANE Select | NP_000048.1:p.His1028Arg | |
| NM_001287246.2:c.3083A>G | NP_001274175.1:p.His1028Arg | |
| NM_001287247.2:c.3083A>G | NP_001274176.1:p.His1028Arg | |
| NM_001287248.2:c.1958A>G | NP_001274177.1:p.His653Arg |