ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00010943 (SAS)
Exomes Max Group AF
0.00011587 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103198008A>G , CM000673.2:g.103198008A>G | GRCh38 |
| NC_000011.9:g.103068737A>G , CM000673.1:g.103068737A>G | GRCh37 |
| NC_000011.8:g.102573947A>G | NCBI36 |
| NG_016423.1:g.93578A>G | |
| NG_016423.2:g.93578A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.7784A>G MANE Plus Clinical | ENSP00000497174.1:p.His2595Arg | |
| ENST00000375735.7:c.7784A>G MANE Select | ENSP00000364887.2:p.His2595Arg | |
| ENST00000649323.1:c.*5308A>G | ENSP00000497581.1:n.*5308A>G | |
| ENST00000650373.1:c.7784A>G | ENSP00000497174.1:p.His2595Arg | |
| ENST00000334267.11:c.2205+63589A>G | ENSP00000334021.7:n.2205+63589A>G | |
| ENST00000375735.6:c.7784A>G | ENSP00000364887.2:p.His2595Arg | |
| ENST00000398093.7:c.7784A>G | ENSP00000381167.3:p.His2595Arg | |
| NM_001080463.1:c.7784A>G | NP_001073932.1:p.His2595Arg | |
| NM_001377.2:c.7784A>G | NP_001368.2:p.His2595Arg | |
| XM_006718903.2:c.7763A>G | XP_006718966.1:p.His2588Arg | |
| XM_017018291.1:c.7784A>G | XP_016873780.1:p.His2595Arg | |
| XM_017018292.1:c.7166A>G | XP_016873781.1:p.His2389Arg | |
| NM_001377.3:c.7784A>G MANE Select | NP_001368.2:p.His2595Arg | |
| NM_001080463.2:c.7784A>G MANE Plus Clinical | NP_001073932.1:p.His2595Arg |