Linked Data
ClinVar Variation Id:
161618
ClinVar RCV Id:
RCV000149154
dbSNP Id:
rs193920842
gnomAD v2:
10-5136663-G-T
gnomAD v3:
10-5094471-G-T
gnomAD v4:
10-5094471-G-T
COSMIC:
COSM5418571
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.5094471G>T , CM000672.2:g.5094471G>T | GRCh38 |
| NC_000010.10:g.5136663G>T , CM000672.1:g.5136663G>T | GRCh37 |
| NC_000010.9:g.5126663G>T | NCBI36 |
| NG_047094.1:g.50706G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380554.5:c.27G>T (AKR1C3) MANE Select | ENSP00000369927.3:p.Lys9Asn | |
| ENST00000380554.4:c.27G>T (AKR1C3) | ENSP00000369927.3:p.Lys9Asn | |
| ENST00000407674.5:c.180+38203C>A (AKR1C2) | ENSP00000385221.2:n.180+38203C>A | |
| ENST00000434459.6:c.933-12990G>T (AKR1C1) | ENSP00000412248.3:n.933-12990G>T | |
| ENST00000439082.7:c.85-1939G>T | ENSP00000401327.3:n.85-1939G>T | |
| ENST00000470862.6:n.729-1939G>T (AKR1C3) | ||
| ENST00000480697.6:n.58G>T (AKR1C3) | ||
| ENST00000480822.5:n.524-1939G>T (AKR1C3) | ||
| ENST00000602997.5:c.16-1939G>T (AKR1C3) | ENSP00000474188.1:n.16-1939G>T | |
| ENST00000605149.5:c.16-1939G>T (AKR1C3) | ENSP00000474882.1:n.16-1939G>T | |
| ENST00000605322.1:n.54G>T (AKR1C3) | ||
| ENST00000605781.5:n.264-1939G>T (AKR1C3) | ||
| NM_001253908.1:c.85-1939G>T (AKR1C3) | NP_001240837.1:n.85-1939G>T | |
| NM_001253909.1:c.27G>T (AKR1C3) | NP_001240838.1:p.Lys9Asn | |
| NM_003739.5:c.27G>T (AKR1C3) | NP_003730.4:p.Lys9Asn | |
| NM_003739.6:c.27G>T (AKR1C3) MANE Select | NP_003730.4:p.Lys9Asn | |
| NM_001253909.2:c.27G>T (AKR1C3) | NP_001240838.1:p.Lys9Asn | |
| NM_001253908.2:c.85-1939G>T (AKR1C3) | NP_001240837.1:n.85-1939G>T |