Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.31883988C= , CM000673.2:g.31883988C= | GRCh38 |
| NC_000011.9:g.31905534C= , CM000673.1:g.31905534C= | GRCh37 |
| NC_000011.8:g.31862110C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_033971.1:n.75-1306C= (PAX6-AS1) | |
| ENST00000506388.2:n.75-1306C= (RCN1) | |
| ENST00000530348.5:c.-245+71491C= (RCN1) | ENSP00000436482.1:n.-245+71491C= |
| ENST00000532942.5:c.101+67349C= (RCN1) | ENSP00000436422.1:n.101+67349C= |