gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66467875 (AFR)
Genomes Max Group AF
0.66507169 (AFR)
Exomes Max Group AF
0.01339489 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19456697G>C , CM000686.2:g.19456697G>C | GRCh38 |
| NC_000024.9:g.21618583G>C , CM000686.1:g.21618583G>C | GRCh37 |
| NC_000024.8:g.20077971G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650676.1:n.2330C>G | ||
| ENST00000400605.5:n.2385C>G | ||
| ENST00000441139.5:n.2195C>G | ||
| ENST00000513194.1:n.4981C>G | ||
| NR_002923.2:n.2195C>G | ||
| NR_033732.1:n.2402C>G |