gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83648739 (AFR)
Genomes Max Group AF
0.83648739 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.31373359A>G , CM000663.2:g.31373359A>G | GRCh38 |
| NC_000001.10:g.31846206A>G , CM000663.1:g.31846206A>G | GRCh37 |
| NC_000001.9:g.31618793A>G | NCBI36 |
| NG_047049.1:g.4925T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482018.1:c.-27-318T>C | ENSP00000473982.1:n.-27-318T>C | |
| XM_011541007.3:c.-345T>C | XP_011539309.1:n.-345T>C |