gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47228827 (MID)
Genomes Max Group AF
0.41056649 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.125701456G>T , CM000668.2:g.125701456G>T | GRCh38 |
| NC_000006.11:g.126022602G>T , CM000668.1:g.126022602G>T | GRCh37 |
| NC_000006.10:g.126064295G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_038906.1:n.203-16002G>T (LINC02523) | ||
| XR_942953.1:n.4391+18968C>A (HEY2-AS1) | ||
| XR_942955.1:n.3872+18968C>A (HEY2-AS1) | ||
| XR_001744330.1:n.836+18968C>A (HEY2-AS1) | ||
| XR_001744332.1:n.675+18968C>A (HEY2-AS1) |