Linked Data
ClinVar Variation Id:
161843
ClinVar RCV Id:
RCV000149379
dbSNP Id:
rs193920781
COSMIC:
COSM1179186
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.61727582G>A , CM000676.2:g.61727582G>A | GRCh38 |
| NC_000014.8:g.62194300G>A , CM000676.1:g.62194300G>A | GRCh37 |
| NC_000014.7:g.61264053G>A | NCBI36 |
| NG_029606.1:g.37182G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337138.9:c.700G>A (HIF1A) MANE Select | ENSP00000338018.4:p.Glu234Lys | |
| ENST00000323441.10:c.700G>A (HIF1A) | ENSP00000323326.6:p.Glu234Lys | |
| ENST00000337138.8:c.700G>A (HIF1A) | ENSP00000338018.4:p.Glu234Lys | |
| ENST00000394997.5:c.703G>A (HIF1A) | ENSP00000378446.1:p.Glu235Lys | |
| ENST00000539097.2:c.772G>A (HIF1A) | ENSP00000437955.1:p.Glu258Lys | |
| ENST00000556237.1:n.528G>A (HIF1A) | ||
| ENST00000557206.1:n.717G>A (HIF1A) | ||
| ENST00000557538.5:c.523G>A (HIF1A) | ENSP00000451696.1:p.Glu175Lys | |
| NM_001243084.1:c.772G>A (HIF1A) | NP_001230013.1:p.Glu258Lys | |
| NM_001530.3:c.700G>A (HIF1A) | NP_001521.1:p.Glu234Lys | |
| NM_181054.2:c.700G>A (HIF1A) | NP_851397.1:p.Glu234Lys | |
| XR_943925.1:n.214-10565C>T (HIF1A-AS3) | ||
| XR_943926.1:n.214-10565C>T (HIF1A-AS3) | ||
| XR_943927.1:n.214-10565C>T (HIF1A-AS3) | ||
| XR_943928.1:n.214-10565C>T (HIF1A-AS3) | ||
| XR_943929.1:n.214-10565C>T (HIF1A-AS3) | ||
| NR_144368.1:n.214-10565C>T (HIF1A-AS3) | ||
| NM_001530.4:c.700G>A (HIF1A) MANE Select | NP_001521.1:p.Glu234Lys | |
| NM_181054.3:c.700G>A (HIF1A) | NP_851397.1:p.Glu234Lys | |
| NM_001243084.2:c.772G>A (HIF1A) | NP_001230013.1:p.Glu258Lys |