MyVariant.info:
GRCh38
chr22:g.42126310C>T
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34321976 (MID)
Genomes Max Group AF
0.33262253 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126310C>T , CM000684.2:g.42126310C>T | GRCh38 |
| NG_008376.3:g.8682G>A | |
| NG_008376.4:g.9501G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.1452+306G>A | XP_011528268.1:n.1452+306G>A | |
| XM_011529967.1:c.1452+306G>A | XP_011528269.1:n.1452+306G>A | |
| XM_011529968.1:c.1452+306G>A | XP_011528270.1:n.1452+306G>A | |
| XM_011529969.1:c.1308+306G>A | XP_011528271.1:n.1308+306G>A | |
| XM_011529970.1:c.1299+306G>A | XP_011528272.1:n.1299+306G>A |