Linked Data
dbSNP Id:
rs5908
ExAC:
5:74652199 A / G
gnomAD v2:
5-74652199-A-G
gnomAD v3:
5-75356374-A-G
gnomAD v4:
5-75356374-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75356374A>G , CM000667.2:g.75356374A>G | GRCh38 |
| NC_000005.9:g.74652199A>G , CM000667.1:g.74652199A>G | GRCh37 |
| NC_000005.8:g.74687955A>G | NCBI36 |
| NG_011449.1:g.24207A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287936.9:c.1912A>G (HMGCR) MANE Select | ENSP00000287936.4:p.Ile638Val | |
| ENST00000644912.1:c.*553T>C (CERT1) | ENSP00000495172.1:n.*553T>C | |
| ENST00000646172.1:c.1841T>C (CERT1) | ENSP00000494969.1:n.1841T>C | |
| ENST00000679456.1:n.2749A>G (HMGCR) | ||
| ENST00000680160.1:c.1912A>G (HMGCR) | ENSP00000505315.1:p.Ile638Val | |
| ENST00000680940.1:c.1912A>G (HMGCR) | ENSP00000505561.1:p.Ile638Val | |
| ENST00000681271.1:c.1912A>G (HMGCR) | ENSP00000505805.1:p.Ile638Val | |
| ENST00000681410.1:c.1912A>G (HMGCR) | ENSP00000506232.1:p.Ile638Val | |
| ENST00000681567.1:c.*2461A>G (HMGCR) | ENSP00000506708.1:n.*2461A>G | |
| ENST00000287936.8:c.1912A>G (HMGCR) | ENSP00000287936.4:p.Ile638Val | |
| ENST00000343975.9:c.1753A>G (HMGCR) | ENSP00000340816.5:p.Ile585Val | |
| ENST00000508070.1:n.375A>G (HMGCR) | ||
| ENST00000511206.5:c.1912A>G (HMGCR) | ENSP00000426745.1:p.Ile638Val | |
| NM_000859.2:c.1912A>G (HMGCR) | NP_000850.1:p.Ile638Val | |
| NM_001130996.1:c.1753A>G (HMGCR) | NP_001124468.1:p.Ile585Val | |
| XM_011543357.1:c.1972A>G (HMGCR) | XP_011541659.1:p.Ile658Val | |
| XM_011543358.1:c.1912A>G (HMGCR) | XP_011541660.1:p.Ile638Val | |
| XM_011543359.1:c.1813A>G (HMGCR) | XP_011541661.1:p.Ile605Val | |
| NM_001364187.1:c.1912A>G (HMGCR) | NP_001351116.1:p.Ile638Val | |
| NM_000859.3:c.1912A>G (HMGCR) MANE Select | NP_000850.1:p.Ile638Val | |
| NM_001130996.2:c.1753A>G (HMGCR) | NP_001124468.1:p.Ile585Val |