Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75362479A= , CM000667.2:g.75362479A= | GRCh38 |
| NC_000005.9:g.74658304A= , CM000667.1:g.74658304A= | GRCh37 |
| NC_000005.8:g.74694060A= | NCBI36 |
| NG_011449.1:g.30312A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644912.1:c.1670-5467T= (CERT1) | ENSP00000495172.1:n.1670-5467T= | |
| ENST00000646172.1:c.1203-5467T= (CERT1) | ENSP00000494969.1:n.1203-5467T= | |
| ENST00000679456.1:n.5641A= (HMGCR) | ||
| ENST00000680940.1:c.*2137A= (HMGCR) | ENSP00000505561.1:n.*2137A= | |
| ENST00000681271.1:c.*2137A= (HMGCR) | ENSP00000505805.1:n.*2137A= | |
| ENST00000681410.1:c.*2137A= (HMGCR) | ENSP00000506232.1:n.*2137A= | |
| ENST00000681567.1:c.*5353A= (HMGCR) | ENSP00000506708.1:n.*5353A= |