Linked Data
ClinVar Variation Id:
1475357
ClinVar RCV Id:
RCV001976176
dbSNP Id:
rs1236736432
gnomAD v2:
1-983500-G-A
gnomAD v3:
1-1048120-G-A
gnomAD v4:
1-1048120-G-A
COSMIC:
COSM5977796
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1048120G>A , CM000663.2:g.1048120G>A | GRCh38 |
| NC_000001.10:g.983500G>A , CM000663.1:g.983500G>A | GRCh37 |
| NC_000001.9:g.973363G>A | NCBI36 |
| NG_016346.1:g.32998G>A , LRG_198:g.32998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.3860G>A MANE Select | ENSP00000368678.2:p.Arg1287Gln | |
| ENST00000651234.1:c.3545G>A | ENSP00000499046.1:p.Arg1182Gln | |
| ENST00000652369.1:c.3545G>A | ENSP00000498543.1:p.Arg1182Gln | |
| ENST00000379370.6:c.3860G>A | ENSP00000368678.2:p.Arg1287Gln | |
| ENST00000620552.4:c.3446G>A | ENSP00000484607.1:p.Arg1149Gln | |
| NM_001305275.1:c.3860G>A | NP_001292204.1:p.Arg1287Gln | |
| NM_198576.3:c.3860G>A | NP_940978.2:p.Arg1287Gln | |
| XM_005244749.2:c.3860G>A | XP_005244806.1:p.Arg1287Gln | |
| XM_006710635.2:c.3860G>A | XP_006710698.1:p.Arg1287Gln | |
| XM_011541429.1:c.3860G>A | XP_011539731.1:p.Arg1287Gln | |
| XM_011541430.1:c.2987G>A | XP_011539732.1:p.Arg996Gln | |
| XM_011541431.1:c.2126G>A | XP_011539733.1:p.Arg709Gln | |
| XR_946650.1:n.3927G>A | ||
| NM_001364727.1:c.3545G>A | NP_001351656.1:p.Arg1182Gln | |
| XM_005244749.3:c.3860G>A | XP_005244806.1:p.Arg1287Gln | |
| XM_011541429.2:c.3860G>A | XP_011539731.1:p.Arg1287Gln | |
| XR_946650.2:n.3931G>A | ||
| NM_001305275.2:c.3860G>A | NP_001292204.1:p.Arg1287Gln | |
| NM_198576.4:c.3860G>A MANE Select | NP_940978.2:p.Arg1287Gln | |
| NM_001364727.2:c.3545G>A | NP_001351656.1:p.Arg1182Gln |