Linked Data
ClinVar Variation Id:
40431
ClinVar RCV Id:
RCV000038468
RCV000149841
RCV000509400
RCV000659682
RCV001250943
RCV001813233
RCV002426537
dbSNP Id:
rs12628
ExAC:
11:534242 A / G
gnomAD v2:
11-534242-A-G
gnomAD v3:
11-534242-A-G
gnomAD v4:
11-534242-A-G
ERepo:
CA135996/MONDO:0021060/004
PubMed:
PMID:16372351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.534242A>G , CM000673.2:g.534242A>G | GRCh38 |
| NC_000011.9:g.534242A>G , CM000673.1:g.534242A>G | GRCh37 |
| NC_000011.8:g.524242A>G | NCBI36 |
| NG_007666.1:g.6309T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397594.7:c.81T>C (HRAS) | ENSP00000380722.3:p.His27= | |
| ENST00000417302.7:c.81T>C (HRAS) MANE Plus Clinical | ENSP00000388246.1:p.His27= | |
| ENST00000417302.6:c.81T>C (HRAS) | ENSP00000388246.1:p.His27= | |
| ENST00000462734.2:c.81T>C (HRAS) | ENSP00000507303.1:p.His27= | |
| ENST00000311189.8:c.81T>C (HRAS) MANE Select | ENSP00000309845.7:p.His27= | |
| ENST00000311189.7:c.81T>C (HRAS) | ENSP00000309845.7:p.His27= | |
| ENST00000397594.5:c.81T>C (HRAS) | ENSP00000380722.1:p.His27= | |
| ENST00000397596.6:c.81T>C (HRAS) | ENSP00000380723.2:p.His27= | |
| ENST00000417302.5:c.81T>C (HRAS) | ENSP00000388246.1:p.His27= | |
| ENST00000451590.5:c.81T>C (HRAS) | ENSP00000407586.1:p.His27= | |
| ENST00000468682.2:n.569T>C (HRAS) | ||
| ENST00000493230.5:c.81T>C (HRAS) | ENSP00000434023.1:p.His27= | |
| NM_001130442.1:c.81T>C (HRAS) | NP_001123914.1:p.His27= | |
| NM_005343.2:c.81T>C (HRAS) | NP_005334.1:p.His27= | |
| NM_176795.3:c.81T>C (HRAS) | NP_789765.1:p.His27= | |
| XM_011519875.1:c.-424-4356A>G (LRRC56) | XP_011518177.1:n.-424-4356A>G | |
| XM_011519877.1:c.-161-5338A>G (LRRC56) | XP_011518179.1:n.-161-5338A>G | |
| XR_242795.1:n.280T>C (HRAS) | ||
| NM_001130442.2:c.81T>C (HRAS) | NP_001123914.1:p.His27= | |
| NM_001318054.1:c.-239T>C (HRAS) | NP_001304983.1:n.-239T>C | |
| NM_005343.3:c.81T>C (HRAS) | NP_005334.1:p.His27= | |
| NM_176795.4:c.81T>C (HRAS) | NP_789765.1:p.His27= | |
| XM_011519875.2:c.-424-4356A>G (LRRC56) | XP_011518177.1:n.-424-4356A>G | |
| XM_011519877.2:c.-161-5338A>G (LRRC56) | XP_011518179.1:n.-161-5338A>G | |
| XM_017017167.1:c.-499-4281A>G (LRRC56) | XP_016872656.1:n.-499-4281A>G | |
| XM_017017168.1:c.-499-4281A>G (LRRC56) | XP_016872657.1:n.-499-4281A>G | |
| NM_005343.4:c.81T>C (HRAS) MANE Select | NP_005334.1:p.His27= | |
| NM_001318054.2:c.-239T>C (HRAS) | NP_001304983.1:n.-239T>C | |
| NM_001130442.3:c.81T>C (HRAS) | NP_001123914.1:p.His27= | |
| NM_176795.5:c.81T>C (HRAS) MANE Plus Clinical | NP_789765.1:p.His27= |