gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14032591 (AMR)
Genomes Max Group AF
0.14032591 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29977493A>G , CM000668.2:g.29977493A>G | GRCh38 |
| NC_000006.11:g.29945270A>G , CM000668.1:g.29945270A>G | GRCh37 |
| NC_000006.10:g.30053249A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688495.1:n.361-98T>C (POLR1HASP) | ||
| NR_028032.1:n.404-161A>G (HCG9) |