gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32318562 (SAS)
Genomes Max Group AF
0.32318562 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.16455971A>G , CM000683.2:g.16455971A>G | GRCh38 |
| NC_000021.8:g.17828291A>G , CM000683.1:g.17828291A>G | GRCh37 |
| NC_000021.7:g.16750162A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027790.2:n.470-31519A>G | ||
| NR_027791.2:n.388-31519A>G | ||
| NR_111004.1:n.515-31519A>G | ||
| NR_111005.1:n.515-31519A>G | ||
| NR_027790.3:n.470-31519A>G | ||
| NR_027791.3:n.388-31519A>G | ||
| NR_111004.2:n.515-31519A>G | ||
| NR_111005.2:n.515-31519A>G | ||
| NR_136541.1:n.595-31519A>G | ||
| NR_136542.1:n.595-31519A>G | ||
| NR_136543.1:n.388-31519A>G | ||
| NR_136544.1:n.540-31519A>G | ||
| NR_136545.1:n.540-31519A>G | ||
| NR_136546.1:n.540-31519A>G | ||
| NR_136550.1:n.279-31519A>G | ||
| NR_136551.1:n.423-31519A>G | ||
| NR_136552.1:n.423-31519A>G |