gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014913 (AFR)
Genomes Max Group AF
0.00014913 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32973977G>C , CM000665.2:g.32973977G>C | GRCh38 |
| NC_000003.11:g.33015469G>C , CM000665.1:g.33015469G>C | GRCh37 |
| NC_000003.10:g.32990473G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_940697.1:n.228+562C>G | ||
| XM_017007616.1:c.320+562C>G | XP_016863105.1:n.320+562C>G | |
| NM_001393580.1:c.1735-12356C>G | NP_001380509.1:n.1735-12356C>G |