gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37262101 (AMR)
Genomes Max Group AF
0.37262101 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.84458192T>G , CM000675.2:g.84458192T>G | GRCh38 |
| NC_000013.10:g.85032327T>G , CM000675.1:g.85032327T>G | GRCh37 |
| NC_000013.9:g.83930328T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_046871.1:n.139-104172T>G | ||
| XR_942133.1:n.369-46273A>C | ||
| XR_942134.1:n.366-46273A>C |