Linked Data
ClinVar Variation Id:
16316
ClinVar RCV Id:
RCV000017709
dbSNP Id:
rs72549320
gnomAD v4:
1-171092752-G-A
COSMIC:
COSM530575
PubMed:
PMID:12893987
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171092752G>A , CM000663.2:g.171092752G>A | GRCh38 |
| NC_000001.10:g.171061893G>A , CM000663.1:g.171061893G>A | GRCh37 |
| NC_000001.9:g.169328517G>A | NCBI36 |
| NG_012690.1:g.6876G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367755.9:c.94G>A MANE Select | ENSP00000356729.4:p.Glu32Lys | |
| ENST00000367755.8:c.94G>A | ENSP00000356729.4:p.Glu32Lys | |
| ENST00000472784.5:c.94G>A | ENSP00000476963.1:p.Glu32Lys | |
| ENST00000479749.1:c.94G>A | ENSP00000477451.1:p.Glu32Lys | |
| ENST00000530212.5:n.181G>A | ||
| ENST00000534514.1:n.177G>A | ||
| NM_001002294.2:c.94G>A | NP_001002294.1:p.Glu32Lys | |
| NM_006894.5:c.94G>A | NP_008825.4:p.Glu32Lys | |
| XM_005245044.1:c.94G>A | XP_005245101.1:p.Glu32Lys | |
| XM_011509345.1:c.-94G>A | XP_011507647.1:n.-94G>A | |
| XM_011509346.1:c.-94G>A | XP_011507648.1:n.-94G>A | |
| NM_001319173.1:c.-94G>A | NP_001306102.1:n.-94G>A | |
| NM_001319174.1:c.94G>A | NP_001306103.1:p.Glu32Lys | |
| XM_011509345.3:c.-94G>A | XP_011507647.1:n.-94G>A | |
| NM_001002294.3:c.94G>A MANE Select | NP_001002294.1:p.Glu32Lys | |
| NM_001319173.2:c.-94G>A | NP_001306102.1:n.-94G>A | |
| NM_001319174.2:c.94G>A | NP_001306103.1:p.Glu32Lys | |
| NM_006894.6:c.94G>A | NP_008825.4:p.Glu32Lys |