Linked Data
ClinVar Variation Id:
1532
ClinVar RCV Id:
RCV000001596
dbSNP Id:
rs118204063
gnomAD v2:
8-19810897-G-A
gnomAD v4:
8-19953386-G-A
COSMIC:
COSM5886584
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19953386G>A , CM000670.2:g.19953386G>A | GRCh38 |
| NC_000008.10:g.19810897G>A , CM000670.1:g.19810897G>A | GRCh37 |
| NC_000008.9:g.19855177G>A | NCBI36 |
| NG_008855.1:g.19316G>A | |
| NG_008855.2:g.56670G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.506G>A MANE Select | ENSP00000497642.1:p.Gly169Glu | |
| ENST00000311322.8:c.506G>A | ENSP00000309757.6:p.Gly169Glu | |
| ENST00000520959.5:c.278G>A | ENSP00000428496.1:p.Gly93Glu | |
| NM_000237.2:c.506G>A | NP_000228.1:p.Gly169Glu | |
| NM_000237.3:c.506G>A MANE Select | NP_000228.1:p.Gly169Glu |