Linked Data
ClinVar Variation Id:
2439628
ClinVar RCV Id:
RCV003143879
dbSNP Id:
rs773278607
ExAC:
10:104593830 C / T
gnomAD v2:
10-104593830-C-T
gnomAD v3:
10-102834073-C-T
gnomAD v4:
10-102834073-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102834073C>T , CM000672.2:g.102834073C>T | GRCh38 |
| NC_000010.10:g.104593830C>T , CM000672.1:g.104593830C>T | GRCh37 |
| NC_000010.9:g.104583820C>T | NCBI36 |
| NG_007955.1:g.8461G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369884.4:n.152-104C>T | ||
| ENST00000369887.4:c.716G>A (CYP17A1) MANE Select | ENSP00000358903.3:p.Arg239Gln | |
| ENST00000638190.1:c.666+712G>A (CYP17A1) | ENSP00000492539.1:n.666+712G>A | |
| ENST00000638272.1:c.298-865G>A (CYP17A1) | ENSP00000491508.1:n.298-865G>A | |
| ENST00000638971.1:c.666+712G>A (CYP17A1) | ENSP00000492313.1:n.666+712G>A | |
| ENST00000639393.1:c.716G>A (CYP17A1) | ENSP00000492651.1:p.Arg239Gln | |
| ENST00000640633.1:n.478G>A (CYP17A1) | ||
| ENST00000369887.3:c.716G>A (CYP17A1) | ENSP00000358903.3:p.Arg239Gln | |
| ENST00000489268.1:n.1632G>A (CYP17A1) | ||
| NM_000102.3:c.716G>A (CYP17A1) | NP_000093.1:p.Arg239Gln | |
| XR_428804.1:n.206-104C>T (CYP17A1-AS1) | ||
| NM_000102.4:c.716G>A (CYP17A1) MANE Select | NP_000093.1:p.Arg239Gln |