Linked Data
dbSNP Id:
rs10873142
gnomAD v2:
14-62203462-C-T
gnomAD v3:
14-61736744-C-T
gnomAD v4:
14-61736744-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.61736744C>T , CM000676.2:g.61736744C>T | GRCh38 |
| NC_000014.8:g.62203462C>T , CM000676.1:g.62203462C>T | GRCh37 |
| NC_000014.7:g.61273215C>T | NCBI36 |
| NG_029606.1:g.46344C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337138.9:c.1029-145C>T (HIF1A) MANE Select | ENSP00000338018.4:n.1029-145C>T | |
| ENST00000323441.10:c.1029-145C>T (HIF1A) | ENSP00000323326.6:n.1029-145C>T | |
| ENST00000337138.8:c.1029-145C>T (HIF1A) | ENSP00000338018.4:n.1029-145C>T | |
| ENST00000394997.5:c.1032-145C>T (HIF1A) | ENSP00000378446.1:n.1032-145C>T | |
| ENST00000539097.2:c.1101-145C>T (HIF1A) | ENSP00000437955.1:n.1101-145C>T | |
| ENST00000557538.5:c.852-145C>T (HIF1A) | ENSP00000451696.1:n.852-145C>T | |
| NM_001243084.1:c.1101-145C>T (HIF1A) | NP_001230013.1:n.1101-145C>T | |
| NM_001530.3:c.1029-145C>T (HIF1A) | NP_001521.1:n.1029-145C>T | |
| NM_181054.2:c.1029-145C>T (HIF1A) | NP_851397.1:n.1029-145C>T | |
| XR_943925.1:n.213+14141G>A (HIF1A-AS3) | ||
| XR_943926.1:n.213+14141G>A (HIF1A-AS3) | ||
| XR_943927.1:n.213+14141G>A (HIF1A-AS3) | ||
| XR_943928.1:n.213+14141G>A (HIF1A-AS3) | ||
| XR_943929.1:n.213+14141G>A (HIF1A-AS3) | ||
| NR_144368.1:n.213+14141G>A (HIF1A-AS3) | ||
| NM_001530.4:c.1029-145C>T (HIF1A) MANE Select | NP_001521.1:n.1029-145C>T | |
| NM_181054.3:c.1029-145C>T (HIF1A) | NP_851397.1:n.1029-145C>T | |
| NM_001243084.2:c.1101-145C>T (HIF1A) | NP_001230013.1:n.1101-145C>T |