Linked Data
ClinVar Variation Id:
789797
dbSNP Id:
rs61739249
ExAC:
11:48149590 A / G
gnomAD v2:
11-48149590-A-G
gnomAD v3:
11-48128038-A-G
gnomAD v4:
11-48128038-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48128038A>G , CM000673.2:g.48128038A>G | GRCh38 |
| NC_000011.9:g.48149590A>G , CM000673.1:g.48149590A>G | GRCh37 |
| NC_000011.8:g.48106166A>G | NCBI36 |
| NG_012209.1:g.152481A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.1694A>G | ENSP00000514003.1:p.His565Arg | |
| ENST00000418331.7:c.1352A>G MANE Select | ENSP00000400010.2:p.His451Arg | |
| ENST00000418331.6:c.1352A>G | ENSP00000400010.2:p.His451Arg | |
| ENST00000440289.6:c.1352A>G | ENSP00000409733.2:p.His451Arg | |
| ENST00000613246.4:c.1352A>G | ENSP00000477933.1:p.His451Arg | |
| ENST00000615445.4:c.1352A>G | ENSP00000479342.1:p.His451Arg | |
| NM_001098503.1:c.1352A>G | NP_001091973.1:p.His451Arg | |
| NM_002843.3:c.1352A>G | NP_002834.3:p.His451Arg | |
| XM_011520249.1:c.1385A>G | XP_011518551.1:p.His462Arg | |
| XR_930883.1:n.1702A>G | ||
| XM_017018083.1:c.1430A>G | XP_016873572.1:p.His477Arg | |
| XM_017018084.1:c.1373A>G | XP_016873573.1:p.His458Arg | |
| XM_017018085.1:c.1304A>G | XP_016873574.1:p.His435Arg | |
| XR_930883.2:n.1761A>G | ||
| NM_002843.4:c.1352A>G MANE Select | NP_002834.3:p.His451Arg | |
| NM_001098503.2:c.1352A>G | NP_001091973.1:p.His451Arg |