Linked Data
ClinVar Variation Id:
1196539
ClinVar RCV Id:
RCV001560027
dbSNP Id:
rs548057107
gnomAD v2:
10-5038179-C-T
gnomAD v3:
10-4995987-C-T
gnomAD v4:
10-4995987-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.4995987C>T , CM000672.2:g.4995987C>T | GRCh38 |
| NC_000010.10:g.5038179C>T , CM000672.1:g.5038179C>T | GRCh37 |
| NC_000010.9:g.5028179C>T | NCBI36 |
| NG_031852.1:g.27029G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380753.9:c.571-122G>A (AKR1C2) MANE Select | ENSP00000370129.4:n.571-122G>A | |
| ENST00000380753.8:c.571-122G>A (AKR1C2) | ENSP00000370129.4:n.571-122G>A | |
| ENST00000407674.5:c.571-122G>A (AKR1C2) | ENSP00000385221.2:n.571-122G>A | |
| ENST00000421196.7:c.493-122G>A (AKR1C2) | ENSP00000392694.2:n.493-122G>A | |
| ENST00000434459.6:c.932+20051C>T (AKR1C1) | ENSP00000412248.3:n.932+20051C>T | |
| ENST00000460124.5:n.2031-122G>A (AKR1C2) | ||
| ENST00000604507.5:c.571-122G>A (AKR1C2) | ENSP00000474566.1:n.571-122G>A | |
| NM_001354.5:c.571-122G>A (AKR1C2) | NP_001345.1:n.571-122G>A | |
| NM_205845.2:c.571-122G>A (AKR1C2) | NP_995317.1:n.571-122G>A | |
| XM_011519342.1:c.493-122G>A (AKR1C2) | XP_011517644.1:n.493-122G>A | |
| XR_930600.1:n.178-50C>T | ||
| XR_930601.1:n.178-50C>T | ||
| NM_001321027.1:c.493-122G>A (AKR1C2) | NP_001307956.1:n.493-122G>A | |
| XR_001747340.1:n.116C>T | ||
| NM_001321027.2:c.493-122G>A (AKR1C2) | NP_001307956.1:n.493-122G>A | |
| NM_001354.6:c.571-122G>A (AKR1C2) | NP_001345.1:n.571-122G>A | |
| NM_001393392.1:c.571-122G>A (AKR1C2) MANE Select | NP_001380321.1:n.571-122G>A | |
| NM_205845.3:c.571-122G>A (AKR1C2) | NP_995317.1:n.571-122G>A |