gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48509641 (MID)
Genomes Max Group AF
0.43994367 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27800806T>C , CM000679.2:g.27800806T>C | GRCh38 |
| NC_000017.10:g.26127832T>C , CM000679.1:g.26127832T>C | GRCh37 |
| NC_000017.9:g.23151959T>C | NCBI36 |
| NG_011470.1:g.4724A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000582441.1:c.439-1924A>G | ENSP00000462879.1:n.439-1924A>G | |
| XM_011524859.1:c.-73-1924A>G | XP_011523161.1:n.-73-1924A>G |