gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25964875 (EAS)
Genomes Max Group AF
0.25964875 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.108617674A>G , CM000670.2:g.108617674A>G | GRCh38 |
| NC_000008.10:g.109629903A>G , CM000670.1:g.109629903A>G | GRCh37 |
| NC_000008.9:g.109699079A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518838.1:n.265-8848T>C | ||
| NR_136411.1:n.286-8848T>C | ||
| NR_136411.2:n.265-8848T>C |