gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04881412 (EAS)
Genomes Max Group AF
0.04890882 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148825993T>G , CM000667.2:g.148825993T>G | GRCh38 |
| NC_000005.9:g.148205556T>G , CM000667.1:g.148205556T>G | GRCh37 |
| NC_000005.8:g.148185749T>G | NCBI36 |
| NG_016421.1:g.4401T>G | |
| NG_016421.2:g.4401T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.5:c.-839T>G | ENSP00000305372.4:n.-839T>G |