Linked Data
ClinVar Variation Id:
1091129
ClinVar RCV Id:
RCV001410551
dbSNP Id:
rs566879260
ExAC:
10:104592288 G / A
gnomAD v2:
10-104592288-G-A
gnomAD v3:
10-102832531-G-A
gnomAD v4:
10-102832531-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102832531G>A , CM000672.2:g.102832531G>A | GRCh38 |
| NC_000010.10:g.104592288G>A , CM000672.1:g.104592288G>A | GRCh37 |
| NC_000010.9:g.104582278G>A | NCBI36 |
| NG_007955.1:g.10003C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.1119C>T (CYP17A1) MANE Select | ENSP00000358903.3:p.His373= | |
| ENST00000638190.1:c.816C>T (CYP17A1) | ENSP00000492539.1:p.His272= | |
| ENST00000638272.1:c.663C>T (CYP17A1) | ENSP00000491508.1:p.His221= | |
| ENST00000638971.1:c.1032C>T (CYP17A1) | ENSP00000492313.1:p.His344= | |
| ENST00000639393.1:c.1119C>T (CYP17A1) | ENSP00000492651.1:p.His373= | |
| ENST00000640633.1:n.881C>T (CYP17A1) | ||
| ENST00000647664.1:c.*1562G>A (WBP1L) | ENSP00000498131.1:n.*1562G>A | |
| ENST00000369887.3:c.1119C>T (CYP17A1) | ENSP00000358903.3:p.His373= | |
| NM_000102.3:c.1119C>T (CYP17A1) | NP_000093.1:p.His373= | |
| NM_000102.4:c.1119C>T (CYP17A1) MANE Select | NP_000093.1:p.His373= |