Linked Data
ClinVar Variation Id:
1553620
ClinVar RCV Id:
RCV002199430
dbSNP Id:
rs1380638862
gnomAD v2:
10-104592432-C-T
gnomAD v4:
10-102832675-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102832675C>T , CM000672.2:g.102832675C>T | GRCh38 |
| NC_000010.10:g.104592432C>T , CM000672.1:g.104592432C>T | GRCh37 |
| NC_000010.9:g.104582422C>T | NCBI36 |
| NG_007955.1:g.9859G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.975G>A (CYP17A1) MANE Select | ENSP00000358903.3:p.Lys325= | |
| ENST00000638190.1:c.672G>A (CYP17A1) | ENSP00000492539.1:p.Lys224= | |
| ENST00000638272.1:c.519G>A (CYP17A1) | ENSP00000491508.1:p.Lys173= | |
| ENST00000638971.1:c.888G>A (CYP17A1) | ENSP00000492313.1:p.Lys296= | |
| ENST00000639393.1:c.975G>A (CYP17A1) | ENSP00000492651.1:p.Lys325= | |
| ENST00000640633.1:n.737G>A (CYP17A1) | ||
| ENST00000647664.1:c.*1706C>T (WBP1L) | ENSP00000498131.1:n.*1706C>T | |
| ENST00000369887.3:c.975G>A (CYP17A1) | ENSP00000358903.3:p.Lys325= | |
| NM_000102.3:c.975G>A (CYP17A1) | NP_000093.1:p.Lys325= | |
| XR_428804.1:n.9C>T (CYP17A1-AS1) | ||
| NM_000102.4:c.975G>A (CYP17A1) MANE Select | NP_000093.1:p.Lys325= |