gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97687436 (EAS)
Genomes Max Group AF
0.97687436 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189625635A>G , CM000665.2:g.189625635A>G | GRCh38 |
| NC_000003.11:g.189343424A>G , CM000665.1:g.189343424A>G | GRCh37 |
| NC_000003.10:g.190826118A>G | NCBI36 |
| NG_007550.3:g.33890A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011513251.1:c.59+2318A>G | XP_011511553.1:n.59+2318A>G | |
| XM_011513252.1:c.56+28397A>G | XP_011511554.1:n.56+28397A>G | |
| XM_011513253.1:c.23+58740A>G | XP_011511555.1:n.23+58740A>G | |
| NM_001329964.1:c.56+28397A>G | NP_001316893.1:n.56+28397A>G | |
| NM_001329964.2:c.56+28397A>G | NP_001316893.1:n.56+28397A>G |