Linked Data
ClinVar Variation Id:
30066
ClinVar RCV Id:
RCV000022969
dbSNP Id:
rs387906751
PubMed:
PMID:21802064
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.4991861T>G , CM000672.2:g.4991861T>G | GRCh38 |
| NC_000010.10:g.5034053T>G , CM000672.1:g.5034053T>G | GRCh37 |
| NC_000010.9:g.5024053T>G | NCBI36 |
| NG_031852.1:g.31155A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380753.9:c.899A>C (AKR1C2) MANE Select | ENSP00000370129.4:p.Asn300Thr | |
| ENST00000380753.8:c.899A>C (AKR1C2) | ENSP00000370129.4:p.Asn300Thr | |
| ENST00000407674.5:c.899A>C (AKR1C2) | ENSP00000385221.2:p.Asn300Thr | |
| ENST00000421196.7:c.821A>C (AKR1C2) | ENSP00000392694.2:p.Asn274Thr | |
| ENST00000434459.6:c.932+15925T>G (AKR1C1) | ENSP00000412248.3:n.932+15925T>G | |
| ENST00000460124.5:n.2359A>C (AKR1C2) | ||
| NM_001354.5:c.899A>C (AKR1C2) | NP_001345.1:p.Asn300Thr | |
| NM_205845.2:c.899A>C (AKR1C2) | NP_995317.1:p.Asn300Thr | |
| XM_011519342.1:c.821A>C (AKR1C2) | XP_011517644.1:p.Asn274Thr | |
| NM_001321027.1:c.821A>C (AKR1C2) | NP_001307956.1:p.Asn274Thr | |
| NM_001321027.2:c.821A>C (AKR1C2) | NP_001307956.1:p.Asn274Thr | |
| NM_001354.6:c.899A>C (AKR1C2) | NP_001345.1:p.Asn300Thr | |
| NM_001393392.1:c.899A>C (AKR1C2) MANE Select | NP_001380321.1:p.Asn300Thr | |
| NM_205845.3:c.899A>C (AKR1C2) | NP_995317.1:p.Asn300Thr |