Linked Data
ClinVar Variation Id:
595348
ClinVar RCV Id:
RCV000730872
dbSNP Id:
rs968180697
COSMIC:
COSM5031770
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35576174C>T , CM000679.2:g.35576174C>T | GRCh38 |
| NC_000017.10:g.33903193C>T , CM000679.1:g.33903193C>T | GRCh37 |
| NC_000017.9:g.30927306C>T | NCBI36 |
| NG_008447.1:g.7464G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225873.9:c.688G>A MANE Select | ENSP00000225873.3:p.Glu230Lys | |
| ENST00000586663.2:c.688G>A | ENSP00000466894.2:p.Glu230Lys | |
| ENST00000225873.8:c.688G>A | ENSP00000225873.3:p.Glu230Lys | |
| ENST00000586663.1:c.688G>A | ENSP00000466894.1:p.Glu230Lys | |
| ENST00000613219.4:c.688G>A | ENSP00000482609.1:p.Glu230Lys | |
| NM_000286.2:c.688G>A | NP_000277.1:p.Glu230Lys | |
| NM_000286.3:c.688G>A MANE Select | NP_000277.1:p.Glu230Lys |