ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08669468 (SAS)
Genomes Max Group AF
0.08544354 (SAS)
Exomes Max Group AF
0.08026198 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38068851G>A , CM000664.2:g.38068851G>A | GRCh38 |
| NC_000002.11:g.38295994G>A , CM000664.1:g.38295994G>A | GRCh37 |
| NC_000002.10:g.38149498G>A | NCBI36 |
| NG_008386.2:g.12251C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.*1871C>T (CYP1B1) | ENSP00000478839.2:n.*1871C>T | |
| ENST00000610745.5:c.*1871C>T (CYP1B1) MANE Select | ENSP00000478561.1:n.*1871C>T | |
| ENST00000491456.1:n.184+327C>T (CYP1B1) | ||
| ENST00000610745.4:c.*1871C>T (CYP1B1) | ENSP00000478561.1:n.*1871C>T | |
| NM_000104.3:c.*1871C>T (CYP1B1) | NP_000095.2:n.*1871C>T | |
| XR_939668.1:n.3851G>A (RMDN2) | ||
| XM_011532615.3:c.*1897G>A (RMDN2) | XP_011530917.2:n.*1897G>A | |
| XM_017003475.2:c.*1861G>A (RMDN2) | XP_016858964.1:n.*1861G>A | |
| XR_939668.3:n.3982G>A (RMDN2) | ||
| NM_000104.4:c.*1871C>T (CYP1B1) MANE Select | NP_000095.2:n.*1871C>T |