Linked Data
ClinVar Variation Id:
1804
dbSNP Id:
rs104894155
gnomAD v2:
10-104590739-C-T
gnomAD v3:
10-102830982-C-T
gnomAD v4:
10-102830982-C-T
PubMed:
PMID:16849412
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102830982C>T , CM000672.2:g.102830982C>T | GRCh38 |
| NC_000010.10:g.104590739C>T , CM000672.1:g.104590739C>T | GRCh37 |
| NC_000010.9:g.104580729C>T | NCBI36 |
| NG_007955.1:g.11552G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.1247G>A (CYP17A1) MANE Select | ENSP00000358903.3:p.Arg416His | |
| ENST00000638190.1:c.944G>A (CYP17A1) | ENSP00000492539.1:p.Arg315His | |
| ENST00000638272.1:c.791G>A (CYP17A1) | ENSP00000491508.1:p.Arg264His | |
| ENST00000638971.1:c.1160G>A (CYP17A1) | ENSP00000492313.1:p.Arg387His | |
| ENST00000639393.1:c.1250G>A (CYP17A1) | ENSP00000492651.1:p.Arg417His | |
| ENST00000640633.1:n.1009G>A (CYP17A1) | ||
| ENST00000647664.1:c.*628+36C>T (WBP1L) | ENSP00000498131.1:n.*628+36C>T | |
| ENST00000369887.3:c.1247G>A (CYP17A1) | ENSP00000358903.3:p.Arg416His | |
| ENST00000469683.1:n.200G>A (CYP17A1) | ||
| NM_000102.3:c.1247G>A (CYP17A1) | NP_000093.1:p.Arg416His | |
| NM_000102.4:c.1247G>A (CYP17A1) MANE Select | NP_000093.1:p.Arg416His |