UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
376033
ClinVar RCV Id:
RCV000420395
RCV000420623
RCV000421690
RCV000421974
RCV000425694
RCV000426826
RCV000428206
RCV000428443
RCV000430634
RCV000433098
RCV000436845
RCV000437079
RCV000438263
RCV000438465
RCV000439626
RCV000445166
RCV000445204
RCV001255684
RCV001372584
RCV001849368
dbSNP Id:
rs121913233
gnomAD v2:
11-533874-T-A
CIViC:
CA16602500
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.533874T>A , CM000673.2:g.533874T>A | GRCh38 |
| NC_000011.9:g.533874T>A , CM000673.1:g.533874T>A | GRCh37 |
| NC_000011.8:g.523874T>A | NCBI36 |
| NG_007666.1:g.6677A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397594.7:c.182A>T (HRAS) | ENSP00000380722.3:p.Gln61Leu | |
| ENST00000417302.7:c.182A>T (HRAS) MANE Plus Clinical | ENSP00000388246.1:p.Gln61Leu | |
| ENST00000417302.6:c.182A>T (HRAS) | ENSP00000388246.1:p.Gln61Leu | |
| ENST00000462734.2:c.182A>T (HRAS) | ENSP00000507303.1:p.Gln61Leu | |
| ENST00000311189.8:c.182A>T (HRAS) MANE Select | ENSP00000309845.7:p.Gln61Leu | |
| ENST00000311189.7:c.182A>T (HRAS) | ENSP00000309845.7:p.Gln61Leu | |
| ENST00000397594.5:c.182A>T (HRAS) | ENSP00000380722.1:p.Gln61Leu | |
| ENST00000397596.6:c.182A>T (HRAS) | ENSP00000380723.2:p.Gln61Leu | |
| ENST00000417302.5:c.182A>T (HRAS) | ENSP00000388246.1:p.Gln61Leu | |
| ENST00000451590.5:c.182A>T (HRAS) | ENSP00000407586.1:p.Gln61Leu | |
| ENST00000468682.2:n.670A>T (HRAS) | ||
| ENST00000479482.1:n.103A>T (HRAS) | ||
| ENST00000493230.5:c.182A>T (HRAS) | ENSP00000434023.1:p.Gln61Leu | |
| NM_001130442.1:c.182A>T (HRAS) | NP_001123914.1:p.Gln61Leu | |
| NM_005343.2:c.182A>T (HRAS) | NP_005334.1:p.Gln61Leu | |
| NM_176795.3:c.182A>T (HRAS) | NP_789765.1:p.Gln61Leu | |
| XM_011519875.1:c.-424-4724T>A (LRRC56) | XP_011518177.1:n.-424-4724T>A | |
| XM_011519877.1:c.-162+5537T>A (LRRC56) | XP_011518179.1:n.-162+5537T>A | |
| XR_242795.1:n.381A>T (HRAS) | ||
| NM_001130442.2:c.182A>T (HRAS) | NP_001123914.1:p.Gln61Leu | |
| NM_001318054.1:c.-138A>T (HRAS) | NP_001304983.1:n.-138A>T | |
| NM_005343.3:c.182A>T (HRAS) | NP_005334.1:p.Gln61Leu | |
| NM_176795.4:c.182A>T (HRAS) | NP_789765.1:p.Gln61Leu | |
| XM_011519875.2:c.-424-4724T>A (LRRC56) | XP_011518177.1:n.-424-4724T>A | |
| XM_011519877.2:c.-162+5537T>A (LRRC56) | XP_011518179.1:n.-162+5537T>A | |
| XM_017017167.1:c.-499-4649T>A (LRRC56) | XP_016872656.1:n.-499-4649T>A | |
| XM_017017168.1:c.-499-4649T>A (LRRC56) | XP_016872657.1:n.-499-4649T>A | |
| NM_005343.4:c.182A>T (HRAS) MANE Select | NP_005334.1:p.Gln61Leu | |
| NM_001318054.2:c.-138A>T (HRAS) | NP_001304983.1:n.-138A>T | |
| NM_001130442.3:c.182A>T (HRAS) | NP_001123914.1:p.Gln61Leu | |
| NM_176795.5:c.182A>T (HRAS) MANE Plus Clinical | NP_789765.1:p.Gln61Leu |