Linked Data
ClinVar Variation Id:
469006
ClinVar RCV Id:
RCV000539742
dbSNP Id:
rs1337857330
gnomAD v4:
12-12718050-G-A
COSMIC:
COSM4534776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718050G>A , CM000674.2:g.12718050G>A | GRCh38 |
| NC_000012.11:g.12870984G>A , CM000674.1:g.12870984G>A | GRCh37 |
| NC_000012.10:g.12762251G>A | NCBI36 |
| NG_016341.1:g.5683G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.211G>A | ENSP00000507272.1:p.Glu71Lys | |
| ENST00000682620.1:n.1631-775G>A | ||
| ENST00000684771.1:n.585-775G>A | ||
| ENST00000228872.9:c.211G>A MANE Select | ENSP00000228872.4:p.Glu71Lys | |
| ENST00000228872.8:c.211G>A | ENSP00000228872.4:p.Glu71Lys | |
| ENST00000396340.1:c.211G>A | ENSP00000379629.1:p.Glu71Lys | |
| ENST00000442489.1:c.190G>A | ENSP00000407597.1:p.Glu64Lys | |
| ENST00000477087.1:n.155-775G>A | ||
| NM_004064.4:c.211G>A | NP_004055.1:p.Glu71Lys | |
| NM_004064.5:c.211G>A MANE Select | NP_004055.1:p.Glu71Lys |