gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1079699 (NFE)
Genomes Max Group AF
0.1079699 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32896437A>G , CM000664.2:g.32896437A>G | GRCh38 |
| NC_000002.11:g.33121504A>G , CM000664.1:g.33121504A>G | GRCh37 |
| NC_000002.10:g.32975008A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027098.1:n.290-2103A>G | ||
| NR_027099.1:n.253-488A>G | ||
| NR_027100.1:n.27-2103A>G | ||
| XR_939938.1:n.351+6300T>C | ||
| XR_939939.1:n.39-6439T>C | ||
| NR_027098.2:n.300-2103A>G | ||
| NR_027099.2:n.968-488A>G | ||
| XR_939938.2:n.354+6300T>C |