Linked Data
ClinVar Variation Id:
2681092
dbSNP Id:
rs1315561755
gnomAD v2:
10-104591315-G-A
gnomAD v4:
10-102831558-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102831558G>A , CM000672.2:g.102831558G>A | GRCh38 |
| NC_000010.10:g.104591315G>A , CM000672.1:g.104591315G>A | GRCh37 |
| NC_000010.9:g.104581305G>A | NCBI36 |
| NG_007955.1:g.10976C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.1193C>T (CYP17A1) MANE Select | ENSP00000358903.3:p.Ala398Val | |
| ENST00000638190.1:c.890C>T (CYP17A1) | ENSP00000492539.1:p.Ala297Val | |
| ENST00000638272.1:c.737C>T (CYP17A1) | ENSP00000491508.1:p.Ala246Val | |
| ENST00000638971.1:c.1106C>T (CYP17A1) | ENSP00000492313.1:p.Ala369Val | |
| ENST00000639393.1:c.1196C>T (CYP17A1) | ENSP00000492651.1:p.Ala399Val | |
| ENST00000640633.1:n.955C>T (CYP17A1) | ||
| ENST00000647664.1:c.*629-40G>A (WBP1L) | ENSP00000498131.1:n.*629-40G>A | |
| ENST00000369887.3:c.1193C>T (CYP17A1) | ENSP00000358903.3:p.Ala398Val | |
| ENST00000469683.1:n.146C>T (CYP17A1) | ||
| NM_000102.3:c.1193C>T (CYP17A1) | NP_000093.1:p.Ala398Val | |
| NM_000102.4:c.1193C>T (CYP17A1) MANE Select | NP_000093.1:p.Ala398Val |