dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00511493 (EAS)
Genomes Max Group AF
0.00105407 (EAS)
Exomes Max Group AF
0.00567023 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42131023C>G , CM000684.2:g.42131023C>G | GRCh38 |
| NC_000022.10:g.42527025C>G , CM000684.1:g.42527025C>G | GRCh37 |
| NC_000022.9:g.40856969C>G | NCBI36 |
| NG_008376.3:g.3969G>C | |
| NG_008376.4:g.4788G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.-232G>C | XP_011528268.1:n.-232G>C | |
| XM_011529967.1:c.-232G>C | XP_011528269.1:n.-232G>C | |
| XM_011529968.1:c.-232G>C | XP_011528270.1:n.-232G>C | |
| XM_011529969.1:c.37+274G>C | XP_011528271.1:n.37+274G>C | |
| XM_011529970.1:c.-232G>C | XP_011528272.1:n.-232G>C | |
| XM_011529971.1:c.37+274G>C | XP_011528273.1:n.37+274G>C | |
| XM_011529972.1:c.-232G>C | XP_011528274.1:n.-232G>C | |
| XR_430455.2:n.328+335C>G | ||
| XR_002958749.1:n.275+335C>G |