dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28300698 (SAS)
Genomes Max Group AF
0.28300698 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51314513A>G , CM000677.2:g.51314513A>G | GRCh38 |
| NC_000015.9:g.51606710A>G , CM000677.1:g.51606710A>G | GRCh37 |
| NC_000015.8:g.49394002A>G | NCBI36 |
| NG_007982.1:g.29086T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396402.6:c.-39+23982T>C (CYP19A1) MANE Select | ENSP00000379683.1:n.-39+23982T>C | |
| ENST00000260433.6:c.-39+9303T>C (CYP19A1) | ENSP00000260433.2:n.-39+9303T>C | |
| ENST00000396402.5:c.-39+23982T>C (CYP19A1) | ENSP00000379683.1:n.-39+23982T>C | |
| ENST00000396404.8:c.-39+9303T>C (CYP19A1) | ENSP00000379685.4:n.-39+9303T>C | |
| ENST00000405011.6:c.-194+23982T>C (CYP19A1) | ENSP00000384389.2:n.-194+23982T>C | |
| ENST00000439712.6:c.-283+23982T>C (CYP19A1) | ENSP00000390614.2:n.-283+23982T>C | |
| ENST00000453807.6:c.-230+23982T>C (CYP19A1) | ENSP00000391139.2:n.-230+23982T>C | |
| ENST00000492852.1:n.801-1329T>C (CYP19A1) | ||
| ENST00000557858.5:c.-39+23982T>C (CYP19A1) | ENSP00000452627.1:n.-39+23982T>C | |
| ENST00000557934.5:c.-39+23982T>C (CYP19A1) | ENSP00000454004.1:n.-39+23982T>C | |
| ENST00000558328.5:c.-39+23924T>C (CYP19A1) | ENSP00000453280.1:n.-39+23924T>C | |
| ENST00000559646.1:c.-39+3920T>C (CYP19A1) | ENSP00000453318.1:n.-39+3920T>C | |
| ENST00000559980.5:c.-283+23305T>C (CYP19A1) | ENSP00000452872.1:n.-283+23305T>C | |
| ENST00000561075.5:c.-39+23982T>C (CYP19A1) | ENSP00000454039.1:n.-39+23982T>C | |
| NM_000103.3:c.-39+23982T>C (CYP19A1) | NP_000094.2:n.-39+23982T>C | |
| NM_031226.2:c.-39+9303T>C (CYP19A1) | NP_112503.1:n.-39+9303T>C | |
| XM_005254191.1:c.-39+3920T>C (CYP19A1) | XP_005254248.1:n.-39+3920T>C | |
| XR_932224.1:n.3217+5513A>G (PIRC66) | ||
| XR_932226.1:n.2510+5513A>G (PIRC66) | ||
| XR_932229.1:n.5994+5513A>G (PIRC66) | ||
| NM_001347248.1:c.-39+9303T>C (CYP19A1) | NP_001334177.1:n.-39+9303T>C | |
| NM_001347249.1:c.-39+3920T>C (CYP19A1) | NP_001334178.1:n.-39+3920T>C | |
| NM_000103.4:c.-39+23982T>C (CYP19A1) MANE Select | NP_000094.2:n.-39+23982T>C | |
| NM_001347249.2:c.-39+3920T>C (CYP19A1) | NP_001334178.1:n.-39+3920T>C | |
| NM_031226.3:c.-39+9303T>C (CYP19A1) | NP_112503.1:n.-39+9303T>C |