Linked Data
ClinVar Variation Id:
2820635
ClinVar RCV Id:
RCV003709287
dbSNP Id:
rs764758497
ExAC:
10:104590634 T / G
gnomAD v2:
10-104590634-T-G
gnomAD v4:
10-102830877-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102830877T>G , CM000672.2:g.102830877T>G | GRCh38 |
| NC_000010.10:g.104590634T>G , CM000672.1:g.104590634T>G | GRCh37 |
| NC_000010.9:g.104580624T>G | NCBI36 |
| NG_007955.1:g.11657A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.1352A>C (CYP17A1) MANE Select | ENSP00000358903.3:p.Glu451Ala | |
| ENST00000638190.1:c.1049A>C (CYP17A1) | ENSP00000492539.1:p.Glu350Ala | |
| ENST00000638272.1:c.896A>C (CYP17A1) | ENSP00000491508.1:p.Glu299Ala | |
| ENST00000638971.1:c.1265A>C (CYP17A1) | ENSP00000492313.1:p.Glu422Ala | |
| ENST00000639393.1:c.1355A>C (CYP17A1) | ENSP00000492651.1:p.Glu452Ala | |
| ENST00000640633.1:n.1114A>C (CYP17A1) | ||
| ENST00000647664.1:c.*559T>G (WBP1L) | ENSP00000498131.1:n.*559T>G | |
| ENST00000369887.3:c.1352A>C (CYP17A1) | ENSP00000358903.3:p.Glu451Ala | |
| NM_000102.3:c.1352A>C (CYP17A1) | NP_000093.1:p.Glu451Ala | |
| NM_000102.4:c.1352A>C (CYP17A1) MANE Select | NP_000093.1:p.Glu451Ala |