gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41395049 (AFR)
Genomes Max Group AF
0.41395049 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51333026T>C , CM000677.2:g.51333026T>C | GRCh38 |
| NC_000015.9:g.51625223T>C , CM000677.1:g.51625223T>C | GRCh37 |
| NC_000015.8:g.49412515T>C | NCBI36 |
| NG_007982.1:g.10573A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396402.6:c.-39+5469A>G MANE Select | ENSP00000379683.1:n.-39+5469A>G | |
| ENST00000396402.5:c.-39+5469A>G | ENSP00000379683.1:n.-39+5469A>G | |
| ENST00000396404.8:c.-148+5469A>G | ENSP00000379685.4:n.-148+5469A>G | |
| ENST00000405011.6:c.-194+5469A>G | ENSP00000384389.2:n.-194+5469A>G | |
| ENST00000439712.6:c.-283+5469A>G | ENSP00000390614.2:n.-283+5469A>G | |
| ENST00000453807.6:c.-230+5469A>G | ENSP00000391139.2:n.-230+5469A>G | |
| ENST00000492852.1:n.87+5469A>G | ||
| ENST00000557858.5:c.-39+5469A>G | ENSP00000452627.1:n.-39+5469A>G | |
| ENST00000557934.5:c.-39+5469A>G | ENSP00000454004.1:n.-39+5469A>G | |
| ENST00000558328.5:c.-39+5411A>G | ENSP00000453280.1:n.-39+5411A>G | |
| ENST00000559980.5:c.-283+4792A>G | ENSP00000452872.1:n.-283+4792A>G | |
| ENST00000561075.5:c.-39+5469A>G | ENSP00000454039.1:n.-39+5469A>G | |
| NM_000103.3:c.-39+5469A>G | NP_000094.2:n.-39+5469A>G | |
| NM_031226.2:c.-148+5469A>G | NP_112503.1:n.-148+5469A>G | |
| NM_000103.4:c.-39+5469A>G MANE Select | NP_000094.2:n.-39+5469A>G | |
| NM_031226.3:c.-148+5469A>G | NP_112503.1:n.-148+5469A>G |