Linked Data
ClinVar Variation Id:
2288200
ClinVar RCV Id:
RCV002841231
dbSNP Id:
rs782753500
ExAC:
10:5141049 T / G
gnomAD v2:
10-5141049-T-G
gnomAD v3:
10-5098857-T-G
gnomAD v4:
10-5098857-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.5098857T>G , CM000672.2:g.5098857T>G | GRCh38 |
| NC_000010.10:g.5141049T>G , CM000672.1:g.5141049T>G | GRCh37 |
| NC_000010.9:g.5131049T>G | NCBI36 |
| NG_047094.1:g.55092T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380554.5:c.425T>G (AKR1C3) MANE Select | ENSP00000369927.3:p.Val142Gly | |
| ENST00000380554.4:c.425T>G (AKR1C3) | ENSP00000369927.3:p.Val142Gly | |
| ENST00000407674.5:c.180+33817A>C (AKR1C2) | ENSP00000385221.2:n.180+33817A>C | |
| ENST00000434459.6:c.933-8604T>G (AKR1C1) | ENSP00000412248.3:n.933-8604T>G | |
| ENST00000439082.7:c.425T>G | ENSP00000401327.3:p.Val142Gly | |
| ENST00000602997.5:c.356T>G (AKR1C3) | ENSP00000474188.1:p.Val119Gly | |
| ENST00000605149.5:c.356T>G (AKR1C3) | ENSP00000474882.1:p.Val119Gly | |
| ENST00000605322.1:n.280-470T>G (AKR1C3) | ||
| ENST00000605781.5:n.604T>G (AKR1C3) | ||
| NM_001253908.1:c.425T>G (AKR1C3) | NP_001240837.1:p.Val142Gly | |
| NM_003739.5:c.425T>G (AKR1C3) | NP_003730.4:p.Val142Gly | |
| NM_003739.6:c.425T>G (AKR1C3) MANE Select | NP_003730.4:p.Val142Gly | |
| NM_001253908.2:c.425T>G (AKR1C3) | NP_001240837.1:p.Val142Gly |