gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8337295 (AFR)
Genomes Max Group AF
0.8337295 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50889862A>G , CM000681.2:g.50889862A>G | GRCh38 |
| NC_000019.9:g.51393118A>G , CM000681.1:g.51393118A>G | GRCh37 |
| NC_000019.8:g.56084930A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597246.1:n.381-1988T>C | ||
| NR_002948.1:n.381-1988T>C |