gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000662 (AFR)
Genomes Max Group AF
0.000008 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15175196A>G , CM000665.2:g.15175196A>G | GRCh38 |
| NC_000003.11:g.15216703A>G , CM000665.1:g.15216703A>G | GRCh37 |
| NC_000003.10:g.15191707A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446690.2:n.1008T>C | ||
| ENST00000487147.5:n.832T>C | ||
| NR_027927.1:n.1008T>C |