gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.77923205 (AFR)
Genomes Max Group AF
0.77923205 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.89031965T>G , CM000667.2:g.89031965T>G | GRCh38 |
| NC_000005.9:g.88327782T>G , CM000667.1:g.88327782T>G | GRCh37 |
| NC_000005.8:g.88363538T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_109941.1:n.498T>G | ||
| XR_948549.1:n.268+27781T>G | ||
| NR_136217.1:n.311-62994T>G | ||
| NR_136218.1:n.401-62994T>G | ||
| NR_136219.1:n.294-62994T>G | ||
| NR_136220.1:n.327-62994T>G | ||
| NR_136221.1:n.220-62994T>G | ||
| NR_136222.1:n.311-62994T>G |