gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34463878 (EAS)
Genomes Max Group AF
0.34463878 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23178907A>G , CM000684.2:g.23178907A>G | GRCh38 |
| NC_000022.10:g.23521094A>G , CM000684.1:g.23521094A>G | GRCh37 |
| NC_000022.9:g.21851094A>G | NCBI36 |
| NG_009244.1:g.3543A>G | |
| NG_009244.2:g.3543A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017028774.1:c.-53+1011T>C | XP_016884263.1:n.-53+1011T>C |