gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43737873 (AFR)
Genomes Max Group AF
0.43737873 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.31883988C>T , CM000673.2:g.31883988C>T | GRCh38 |
| NC_000011.9:g.31905534C>T , CM000673.1:g.31905534C>T | GRCh37 |
| NC_000011.8:g.31862110C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506388.2:n.75-1306C>T (RCN1) | ||
| ENST00000530348.5:c.-245+71491C>T (RCN1) | ENSP00000436482.1:n.-245+71491C>T | |
| ENST00000532942.5:c.101+67349C>T (RCN1) | ENSP00000436422.1:n.101+67349C>T | |
| NR_033971.1:n.75-1306C>T (PAX6-AS1) |