Linked Data
ClinVar Variation Id:
7669
ClinVar RCV Id:
RCV000008108
dbSNP Id:
rs121909179
COSMIC:
COSM323436
PubMed:
PMID:9745458
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17888432G>A , CM000681.2:g.17888432G>A | GRCh38 |
| NC_000019.9:g.17999241G>A , CM000681.1:g.17999241G>A | GRCh37 |
| NC_000019.8:g.17860241G>A | NCBI36 |
| NG_012930.1:g.21460G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222248.4:c.1628G>A MANE Select | ENSP00000222248.2:p.Gly543Glu | |
| ENST00000222248.3:c.1628G>A | ENSP00000222248.2:p.Gly543Glu | |
| NM_000453.2:c.1628G>A | NP_000444.1:p.Gly543Glu | |
| XM_011528192.1:c.1661G>A | XP_011526494.1:p.Gly554Glu | |
| XM_011528193.1:c.1394G>A | XP_011526495.1:p.Gly465Glu | |
| XM_011528194.1:c.1295G>A | XP_011526496.1:p.Gly432Glu | |
| XM_011528192.2:c.1661G>A | XP_011526494.1:p.Gly554Glu | |
| XM_011528193.3:c.1394G>A | XP_011526495.1:p.Gly465Glu | |
| XM_011528194.3:c.1295G>A | XP_011526496.1:p.Gly432Glu | |
| XM_017027158.1:c.1361G>A | XP_016882647.1:p.Gly454Glu | |
| NM_000453.3:c.1628G>A MANE Select | NP_000444.1:p.Gly543Glu |