gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58688453 (AFR)
Genomes Max Group AF
0.58688453 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196875463A>G , CM000663.2:g.196875463A>G | GRCh38 |
| NC_000001.10:g.196844593A>G , CM000663.1:g.196844593A>G | GRCh37 |
| NC_000001.9:g.195111216A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649395.1:n.427-9143A>G | ||
| ENST00000367421.4:c.58+55561A>G | ENSP00000356391.3:n.58+55561A>G | |
| ENST00000608469.5:c.43+17055A>G | ENSP00000477162.1:n.43+17055A>G |