Linked Data
dbSNP Id:
rs17238540
gnomAD v2:
5-74655498-T-G
gnomAD v3:
5-75359673-T-G
gnomAD v4:
5-75359673-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75359673T>G , CM000667.2:g.75359673T>G | GRCh38 |
| NC_000005.9:g.74655498T>G , CM000667.1:g.74655498T>G | GRCh37 |
| NC_000005.8:g.74691254T>G | NCBI36 |
| NG_011449.1:g.27506T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287936.9:c.2457+117T>G (HMGCR) MANE Select | ENSP00000287936.4:n.2457+117T>G | |
| ENST00000644912.1:c.1670-2661A>C (CERT1) | ENSP00000495172.1:n.1670-2661A>C | |
| ENST00000646172.1:c.1203-2661A>C (CERT1) | ENSP00000494969.1:n.1203-2661A>C | |
| ENST00000679456.1:n.3294+117T>G (HMGCR) | ||
| ENST00000680160.1:c.2412+162T>G (HMGCR) | ENSP00000505315.1:n.2412+162T>G | |
| ENST00000680940.1:c.2457+117T>G (HMGCR) | ENSP00000505561.1:n.2457+117T>G | |
| ENST00000681271.1:c.2457+117T>G (HMGCR) | ENSP00000505805.1:n.2457+117T>G | |
| ENST00000681410.1:c.2457+117T>G (HMGCR) | ENSP00000506232.1:n.2457+117T>G | |
| ENST00000681567.1:c.*3006+117T>G (HMGCR) | ENSP00000506708.1:n.*3006+117T>G | |
| ENST00000287936.8:c.2457+117T>G (HMGCR) | ENSP00000287936.4:n.2457+117T>G | |
| ENST00000343975.9:c.2298+117T>G (HMGCR) | ENSP00000340816.5:n.2298+117T>G | |
| ENST00000509085.5:c.288-312T>G (HMGCR) | ||
| ENST00000511206.5:c.2457+117T>G (HMGCR) | ENSP00000426745.1:n.2457+117T>G | |
| ENST00000511986.1:c.139-312T>G (HMGCR) | ENSP00000420871.1:n.139-312T>G | |
| ENST00000514315.2:n.515T>G (HMGCR) | ||
| NM_000859.2:c.2457+117T>G (HMGCR) | NP_000850.1:n.2457+117T>G | |
| NM_001130996.1:c.2298+117T>G (HMGCR) | NP_001124468.1:n.2298+117T>G | |
| XM_011543357.1:c.2517+117T>G (HMGCR) | XP_011541659.1:n.2517+117T>G | |
| XM_011543358.1:c.2457+117T>G (HMGCR) | XP_011541660.1:n.2457+117T>G | |
| XM_011543359.1:c.2358+117T>G (HMGCR) | XP_011541661.1:n.2358+117T>G | |
| NM_001364187.1:c.2457+117T>G (HMGCR) | NP_001351116.1:n.2457+117T>G | |
| NM_000859.3:c.2457+117T>G (HMGCR) MANE Select | NP_000850.1:n.2457+117T>G | |
| NM_001130996.2:c.2298+117T>G (HMGCR) | NP_001124468.1:n.2298+117T>G |