gnomAD v4:
Joint Max Group AF
0.00240828 (EAS)
Exomes Max Group AF
0.4785359 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.15381633T>C , CM000686.2:g.15381633T>C | GRCh38 |
| NC_000024.9:g.17493513T>C , CM000686.1:g.17493513T>C | GRCh37 |
| NC_000024.8:g.16002907T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421058.1:n.250A>G |