Linked Data
dbSNP Id:
rs777799410
ExAC:
5:56170938 A / G
gnomAD v2:
5-56170938-A-G
gnomAD v4:
5-56875111-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56875111A>G , CM000667.2:g.56875111A>G | GRCh38 |
| NC_000005.9:g.56170938A>G , CM000667.1:g.56170938A>G | GRCh37 |
| NC_000005.8:g.56206695A>G | NCBI36 |
| NG_031884.1:g.65039A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.1766A>G MANE Select | ENSP00000382423.3:p.His589Arg | |
| ENST00000399503.3:c.1766A>G | ENSP00000382423.3:p.His589Arg | |
| NM_005921.1:c.1766A>G | NP_005912.1:p.His589Arg | |
| XM_005248519.3:c.1388A>G | XP_005248576.2:p.His463Arg | |
| XM_011543406.1:c.1511A>G | XP_011541708.1:p.His504Arg | |
| XM_011543407.1:c.1686+2106A>G | XP_011541709.1:n.1686+2106A>G | |
| XM_011543408.1:c.1766A>G | XP_011541710.1:p.His589Arg | |
| XM_017009484.1:c.1355A>G | XP_016864973.1:p.His452Arg | |
| XM_017009485.1:c.1277A>G | XP_016864974.1:p.His426Arg | |
| XR_001742068.2:n.1797A>G | ||
| NM_005921.2:c.1766A>G MANE Select | NP_005912.1:p.His589Arg |