Linked Data
dbSNP Id:
rs782478841
ExAC:
10:5141042 G / C
gnomAD v2:
10-5141042-G-C
gnomAD v4:
10-5098850-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.5098850G>C , CM000672.2:g.5098850G>C | GRCh38 |
| NC_000010.10:g.5141042G>C , CM000672.1:g.5141042G>C | GRCh37 |
| NC_000010.9:g.5131042G>C | NCBI36 |
| NG_047094.1:g.55085G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380554.5:c.418G>C (AKR1C3) MANE Select | ENSP00000369927.3:p.Asp140His | |
| ENST00000380554.4:c.418G>C (AKR1C3) | ENSP00000369927.3:p.Asp140His | |
| ENST00000407674.5:c.180+33824C>G (AKR1C2) | ENSP00000385221.2:n.180+33824C>G | |
| ENST00000434459.6:c.933-8611G>C (AKR1C1) | ENSP00000412248.3:n.933-8611G>C | |
| ENST00000439082.7:c.418G>C | ENSP00000401327.3:p.Asp140His | |
| ENST00000602997.5:c.349G>C (AKR1C3) | ENSP00000474188.1:p.Asp117His | |
| ENST00000605149.5:c.349G>C (AKR1C3) | ENSP00000474882.1:p.Asp117His | |
| ENST00000605322.1:n.280-477G>C (AKR1C3) | ||
| ENST00000605781.5:n.597G>C (AKR1C3) | ||
| NM_001253908.1:c.418G>C (AKR1C3) | NP_001240837.1:p.Asp140His | |
| NM_003739.5:c.418G>C (AKR1C3) | NP_003730.4:p.Asp140His | |
| NM_003739.6:c.418G>C (AKR1C3) MANE Select | NP_003730.4:p.Asp140His | |
| NM_001253908.2:c.418G>C (AKR1C3) | NP_001240837.1:p.Asp140His |