Linked Data
ClinVar Variation Id:
1780466
ClinVar RCV Id:
RCV002410059
dbSNP Id:
rs1012875803
gnomAD v2:
1-55527171-A-G
gnomAD v4:
1-55061498-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061498A>G , CM000663.2:g.55061498A>G | GRCh38 |
| NC_000001.10:g.55527171A>G , CM000663.1:g.55527171A>G | GRCh37 |
| NC_000001.9:g.55299759A>G | NCBI36 |
| NG_009061.1:g.26952A>G , LRG_275:g.26952A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*145A>G | ENSP00000501161.2:n.*145A>G | |
| ENST00000710286.1:c.2162A>G | ENSP00000518176.1:p.His721Arg | |
| ENST00000673903.1:c.1430A>G | ENSP00000501257.1:p.His477Arg | |
| ENST00000673913.1:c.655A>G | ENSP00000501161.1:n.655A>G | |
| ENST00000302118.5:c.1805A>G MANE Select | ENSP00000303208.5:p.His602Arg | |
| ENST00000490692.1:n.2351A>G | ||
| NM_174936.3:c.1805A>G , LRG_275t1:c.1805A>G | NP_777596.2:p.His602Arg | |
| NR_110451.1:n.1412A>G | ||
| XM_011541193.1:c.926A>G | XP_011539495.1:p.His309Arg | |
| NM_174936.4:c.1805A>G MANE Select | NP_777596.2:p.His602Arg | |
| NR_110451.2:n.1412A>G |