MyVariant.info:
GRCh38
chr22:g.42132844C>A
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67919689 (EAS)
Genomes Max Group AF
0.673177 (EAS)
Exomes Max Group AF
0.7252649 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132844C>A , CM000684.2:g.42132844C>A | GRCh38 |
| NG_008376.3:g.2148G>T | |
| NG_008376.4:g.2967G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000417586.1:n.302C>A | ||
| XM_011529967.1:c.-1045-1008G>T | XP_011528269.1:n.-1045-1008G>T |