Linked Data
ClinVar Variation Id:
100885
ClinVar RCV Id:
RCV000087247
dbSNP Id:
rs483352762
COSMIC:
COSM5611992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52401340C>G , CM000674.2:g.52401340C>G | GRCh38 |
| NC_000012.11:g.52795124C>G , CM000674.1:g.52795124C>G | GRCh37 |
| NC_000012.10:g.51081391C>G | NCBI36 |
| NG_012298.1:g.10053G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257974.3:c.630G>C MANE Select | ENSP00000257974.3:p.Glu210Asp | |
| ENST00000257974.2:c.630G>C | ENSP00000257974.2:p.Glu210Asp | |
| NM_033033.3:c.630G>C | NP_149022.3:p.Glu210Asp | |
| NM_033033.4:c.630G>C MANE Select | NP_149022.3:p.Glu210Asp |