Linked Data
ClinVar Variation Id:
1799
dbSNP Id:
rs104894145
gnomAD v4:
10-102830946-G-A
PubMed:
PMID:14671162
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102830946G>A , CM000672.2:g.102830946G>A | GRCh38 |
| NC_000010.10:g.104590703G>A , CM000672.1:g.104590703G>A | GRCh37 |
| NC_000010.9:g.104580693G>A | NCBI36 |
| NG_007955.1:g.11588C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.1283C>T (CYP17A1) MANE Select | ENSP00000358903.3:p.Pro428Leu | |
| ENST00000638190.1:c.980C>T (CYP17A1) | ENSP00000492539.1:p.Pro327Leu | |
| ENST00000638272.1:c.827C>T (CYP17A1) | ENSP00000491508.1:p.Pro276Leu | |
| ENST00000638971.1:c.1196C>T (CYP17A1) | ENSP00000492313.1:p.Pro399Leu | |
| ENST00000639393.1:c.1286C>T (CYP17A1) | ENSP00000492651.1:p.Pro429Leu | |
| ENST00000640633.1:n.1045C>T (CYP17A1) | ||
| ENST00000647664.1:c.*628G>A (WBP1L) | ENSP00000498131.1:n.*628G>A | |
| ENST00000369887.3:c.1283C>T (CYP17A1) | ENSP00000358903.3:p.Pro428Leu | |
| NM_000102.3:c.1283C>T (CYP17A1) | NP_000093.1:p.Pro428Leu | |
| NM_000102.4:c.1283C>T (CYP17A1) MANE Select | NP_000093.1:p.Pro428Leu |