Linked Data
ClinVar Variation Id:
1509612
ClinVar RCV Id:
RCV002018035
dbSNP Id:
rs1862753562
COSMIC:
COSM144472
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044788G>A , CM000674.2:g.5044788G>A | GRCh38 |
| NC_000012.11:g.5153954G>A , CM000674.1:g.5153954G>A | GRCh37 |
| NC_000012.10:g.5024215G>A | NCBI36 |
| NG_012198.1:g.5870G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.641G>A MANE Select | ENSP00000252321.3:p.Arg214His | |
| ENST00000252321.4:c.641G>A | ENSP00000252321.3:p.Arg214His | |
| NM_002234.3:c.641G>A | NP_002225.2:p.Arg214His | |
| NM_002234.4:c.641G>A MANE Select | NP_002225.2:p.Arg214His |