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