Linked Data
ClinVar Variation Id:
877969
dbSNP Id:
rs772903405
ExAC:
10:104592273 G / A
gnomAD v2:
10-104592273-G-A
gnomAD v3:
10-102832516-G-A
gnomAD v4:
10-102832516-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102832516G>A , CM000672.2:g.102832516G>A | GRCh38 |
| NC_000010.10:g.104592273G>A , CM000672.1:g.104592273G>A | GRCh37 |
| NC_000010.9:g.104582263G>A | NCBI36 |
| NG_007955.1:g.10018C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.1134C>T (CYP17A1) MANE Select | ENSP00000358903.3:p.Asp378= | |
| ENST00000638190.1:c.831C>T (CYP17A1) | ENSP00000492539.1:p.Asp277= | |
| ENST00000638272.1:c.678C>T (CYP17A1) | ENSP00000491508.1:p.Asp226= | |
| ENST00000638971.1:c.1047C>T (CYP17A1) | ENSP00000492313.1:p.Asp349= | |
| ENST00000639393.1:c.1134C>T (CYP17A1) | ENSP00000492651.1:p.Asp378= | |
| ENST00000640633.1:n.896C>T (CYP17A1) | ||
| ENST00000647664.1:c.*1547G>A (WBP1L) | ENSP00000498131.1:n.*1547G>A | |
| ENST00000369887.3:c.1134C>T (CYP17A1) | ENSP00000358903.3:p.Asp378= | |
| NM_000102.3:c.1134C>T (CYP17A1) | NP_000093.1:p.Asp378= | |
| NM_000102.4:c.1134C>T (CYP17A1) MANE Select | NP_000093.1:p.Asp378= |