MyVariant.info:
GRCh38
chr22:g.42131531G>A
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50592082 (AFR)
Genomes Max Group AF
0.50592082 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42131531G>A , CM000684.2:g.42131531G>A | GRCh38 |
| NG_008376.3:g.3461C>T | |
| NG_008376.4:g.4280C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.-740C>T | XP_011528268.1:n.-740C>T | |
| XM_011529967.1:c.-740C>T | XP_011528269.1:n.-740C>T | |
| XM_011529968.1:c.-740C>T | XP_011528270.1:n.-740C>T | |
| XM_011529969.1:c.-198C>T | XP_011528271.1:n.-198C>T | |
| XM_011529970.1:c.-740C>T | XP_011528272.1:n.-740C>T | |
| XM_011529971.1:c.-198C>T | XP_011528273.1:n.-198C>T | |
| XM_011529972.1:c.-740C>T | XP_011528274.1:n.-740C>T | |
| XR_430455.2:n.329-523G>A | ||
| XR_002958749.1:n.276-523G>A |