gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65385962 (EAS)
Genomes Max Group AF
0.65385962 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.74600899C>T , CM000670.2:g.74600899C>T | GRCh38 |
| NC_000008.10:g.75513134C>T , CM000670.1:g.75513134C>T | GRCh37 |
| NC_000008.9:g.75675689C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_033830.1:n.43+991C>T (MIR2052HG) | ||
| XR_929054.1:n.459-10522G>A (LINC03071) | ||
| XR_929055.1:n.278-10522G>A (LINC03071) | ||
| XR_929057.1:n.336-10522G>A (LINC03071) | ||
| XR_001745957.1:n.742-10522G>A (LINC03071) | ||
| XR_001745958.1:n.561-10522G>A (LINC03071) | ||
| XR_001745960.1:n.336-10522G>A (LINC03071) |