gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49777798 (AFR)
Genomes Max Group AF
0.49777798 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38790903A>G , CM000666.2:g.38790903A>G | GRCh38 |
| NC_000004.11:g.38792524A>G , CM000666.1:g.38792524A>G | GRCh37 |
| NC_000004.10:g.38468919A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505744.5:n.564T>C | ||
| ENST00000510552.1:n.426T>C | ||
| XR_925162.1:n.4898T>C | ||
| XR_925165.1:n.3064T>C |