Linked Data
dbSNP Id:
rs8005745
gnomAD v2:
14-62185295-T-C
gnomAD v3:
14-61718577-T-C
gnomAD v4:
14-61718577-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.61718577T>C , CM000676.2:g.61718577T>C | GRCh38 |
| NC_000014.8:g.62185295T>C , CM000676.1:g.62185295T>C | GRCh37 |
| NC_000014.7:g.61255048T>C | NCBI36 |
| NG_029606.1:g.28177T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337138.9:c.36-1805T>C (HIF1A) MANE Select | ENSP00000338018.4:n.36-1805T>C | |
| ENST00000323441.10:c.36-1805T>C (HIF1A) | ENSP00000323326.6:n.36-1805T>C | |
| ENST00000337138.8:c.36-1805T>C (HIF1A) | ENSP00000338018.4:n.36-1805T>C | |
| ENST00000394997.5:c.36-1802T>C (HIF1A) | ENSP00000378446.1:n.36-1802T>C | |
| ENST00000539097.2:c.105-1802T>C (HIF1A) | ENSP00000437955.1:n.105-1802T>C | |
| ENST00000553999.5:n.328-2932T>C (HIF1A) | ||
| ENST00000557206.1:n.53-1805T>C (HIF1A) | ||
| ENST00000557446.5:n.328-2932T>C (HIF1A) | ||
| ENST00000557538.5:c.-145-1802T>C (HIF1A) | ENSP00000451696.1:n.-145-1802T>C | |
| NM_001243084.1:c.105-1802T>C (HIF1A) | NP_001230013.1:n.105-1802T>C | |
| NM_001530.3:c.36-1805T>C (HIF1A) | NP_001521.1:n.36-1805T>C | |
| NM_181054.2:c.36-1805T>C (HIF1A) | NP_851397.1:n.36-1805T>C | |
| XR_943925.1:n.214-1560A>G (HIF1A-AS3) | ||
| XR_943926.1:n.214-1560A>G (HIF1A-AS3) | ||
| XR_943927.1:n.214-1560A>G (HIF1A-AS3) | ||
| XR_943928.1:n.214-1560A>G (HIF1A-AS3) | ||
| XR_943929.1:n.214-1560A>G (HIF1A-AS3) | ||
| NR_144368.1:n.214-1560A>G (HIF1A-AS3) | ||
| NM_001530.4:c.36-1805T>C (HIF1A) MANE Select | NP_001521.1:n.36-1805T>C | |
| NM_181054.3:c.36-1805T>C (HIF1A) | NP_851397.1:n.36-1805T>C | |
| NM_001243084.2:c.105-1802T>C (HIF1A) | NP_001230013.1:n.105-1802T>C |