Linked Data
ClinVar Variation Id:
1088123
ClinVar RCV Id:
RCV001406478
dbSNP Id:
rs6164
ExAC:
10:104590702 C / T
gnomAD v2:
10-104590702-C-T
gnomAD v4:
10-102830945-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102830945C>T , CM000672.2:g.102830945C>T | GRCh38 |
| NC_000010.10:g.104590702C>T , CM000672.1:g.104590702C>T | GRCh37 |
| NC_000010.9:g.104580692C>T | NCBI36 |
| NG_007955.1:g.11589G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.1284G>A (CYP17A1) MANE Select | ENSP00000358903.3:p.Pro428= | |
| ENST00000638190.1:c.981G>A (CYP17A1) | ENSP00000492539.1:p.Pro327= | |
| ENST00000638272.1:c.828G>A (CYP17A1) | ENSP00000491508.1:p.Pro276= | |
| ENST00000638971.1:c.1197G>A (CYP17A1) | ENSP00000492313.1:p.Pro399= | |
| ENST00000639393.1:c.1287G>A (CYP17A1) | ENSP00000492651.1:p.Pro429= | |
| ENST00000640633.1:n.1046G>A (CYP17A1) | ||
| ENST00000647664.1:c.*627C>T (WBP1L) | ENSP00000498131.1:n.*627C>T | |
| ENST00000369887.3:c.1284G>A (CYP17A1) | ENSP00000358903.3:p.Pro428= | |
| NM_000102.3:c.1284G>A (CYP17A1) | NP_000093.1:p.Pro428= | |
| NM_000102.4:c.1284G>A (CYP17A1) MANE Select | NP_000093.1:p.Pro428= |