Linked Data
ClinVar Variation Id:
1512295
dbSNP Id:
rs371825363
ExAC:
10:104590641 G / A
gnomAD v2:
10-104590641-G-A
gnomAD v4:
10-102830884-G-A
COSMIC:
COSM1345507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102830884G>A , CM000672.2:g.102830884G>A | GRCh38 |
| NC_000010.10:g.104590641G>A , CM000672.1:g.104590641G>A | GRCh37 |
| NC_000010.9:g.104580631G>A | NCBI36 |
| NG_007955.1:g.11650C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.1345C>T (CYP17A1) MANE Select | ENSP00000358903.3:p.Arg449Cys | |
| ENST00000638190.1:c.1042C>T (CYP17A1) | ENSP00000492539.1:p.Arg348Cys | |
| ENST00000638272.1:c.889C>T (CYP17A1) | ENSP00000491508.1:p.Arg297Cys | |
| ENST00000638971.1:c.1258C>T (CYP17A1) | ENSP00000492313.1:p.Arg420Cys | |
| ENST00000639393.1:c.1348C>T (CYP17A1) | ENSP00000492651.1:p.Arg450Cys | |
| ENST00000640633.1:n.1107C>T (CYP17A1) | ||
| ENST00000647664.1:c.*566G>A (WBP1L) | ENSP00000498131.1:n.*566G>A | |
| ENST00000369887.3:c.1345C>T (CYP17A1) | ENSP00000358903.3:p.Arg449Cys | |
| NM_000102.3:c.1345C>T (CYP17A1) | NP_000093.1:p.Arg449Cys | |
| NM_000102.4:c.1345C>T (CYP17A1) MANE Select | NP_000093.1:p.Arg449Cys |