gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46605959 (EAS)
Genomes Max Group AF
0.46605959 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15185745C>T , CM000665.2:g.15185745C>T | GRCh38 |
| NC_000003.11:g.15227252C>T , CM000665.1:g.15227252C>T | GRCh37 |
| NC_000003.10:g.15202256C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446690.2:n.250-7558G>A | ||
| NR_027927.1:n.250-7558G>A |