Linked Data
ClinVar Variation Id:
1796
dbSNP Id:
rs104894142
gnomAD v2:
10-104592323-G-A
gnomAD v3:
10-102832566-G-A
gnomAD v4:
10-102832566-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102832566G>A , CM000672.2:g.102832566G>A | GRCh38 |
| NC_000010.10:g.104592323G>A , CM000672.1:g.104592323G>A | GRCh37 |
| NC_000010.9:g.104582313G>A | NCBI36 |
| NG_007955.1:g.9968C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.1084C>T (CYP17A1) MANE Select | ENSP00000358903.3:p.Arg362Cys | |
| ENST00000638190.1:c.781C>T (CYP17A1) | ENSP00000492539.1:p.Arg261Cys | |
| ENST00000638272.1:c.628C>T (CYP17A1) | ENSP00000491508.1:p.Arg210Cys | |
| ENST00000638971.1:c.997C>T (CYP17A1) | ENSP00000492313.1:p.Arg333Cys | |
| ENST00000639393.1:c.1084C>T (CYP17A1) | ENSP00000492651.1:p.Arg362Cys | |
| ENST00000640633.1:n.846C>T (CYP17A1) | ||
| ENST00000647664.1:c.*1597G>A (WBP1L) | ENSP00000498131.1:n.*1597G>A | |
| ENST00000369887.3:c.1084C>T (CYP17A1) | ENSP00000358903.3:p.Arg362Cys | |
| NM_000102.3:c.1084C>T (CYP17A1) | NP_000093.1:p.Arg362Cys | |
| NM_000102.4:c.1084C>T (CYP17A1) MANE Select | NP_000093.1:p.Arg362Cys |