gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32831355 (AFR)
Genomes Max Group AF
0.32831355 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46417451G>A , CM000665.2:g.46417451G>A | GRCh38 |
| NC_000003.11:g.46458942G>A , CM000665.1:g.46458942G>A | GRCh37 |
| NC_000003.10:g.46433946G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_940807.1:n.3271C>T | ||
| XR_940808.1:n.1676-991C>T | ||
| XR_940809.1:n.1675+2066C>T | ||
| XR_940810.1:n.2525C>T | ||
| XR_940811.1:n.4414C>T | ||
| XR_940812.1:n.3222C>T | ||
| NR_151704.1:n.2100C>T |