Linked Data
ClinVar Variation Id:
1797
ClinVar RCV Id:
RCV003466781
dbSNP Id:
rs104894143
gnomAD v3:
10-102831535-A-G
gnomAD v4:
10-102831535-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102831535A>G , CM000672.2:g.102831535A>G | GRCh38 |
| NC_000010.10:g.104591292A>G , CM000672.1:g.104591292A>G | GRCh37 |
| NC_000010.9:g.104581282A>G | NCBI36 |
| NG_007955.1:g.10999T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.1216T>C (CYP17A1) MANE Select | ENSP00000358903.3:p.Trp406Arg | |
| ENST00000638190.1:c.913T>C (CYP17A1) | ENSP00000492539.1:p.Trp305Arg | |
| ENST00000638272.1:c.760T>C (CYP17A1) | ENSP00000491508.1:p.Trp254Arg | |
| ENST00000638971.1:c.1129T>C (CYP17A1) | ENSP00000492313.1:p.Trp377Arg | |
| ENST00000639393.1:c.1219T>C (CYP17A1) | ENSP00000492651.1:p.Trp407Arg | |
| ENST00000640633.1:n.978T>C (CYP17A1) | ||
| ENST00000647664.1:c.*629-63A>G (WBP1L) | ENSP00000498131.1:n.*629-63A>G | |
| ENST00000369887.3:c.1216T>C (CYP17A1) | ENSP00000358903.3:p.Trp406Arg | |
| ENST00000469683.1:n.169T>C (CYP17A1) | ||
| NM_000102.3:c.1216T>C (CYP17A1) | NP_000093.1:p.Trp406Arg | |
| NM_000102.4:c.1216T>C (CYP17A1) MANE Select | NP_000093.1:p.Trp406Arg |