Linked Data
ClinVar Variation Id:
1783
ClinVar RCV Id:
RCV000001856
dbSNP Id:
rs104894137
gnomAD v4:
10-102832626-G-T
PubMed:
PMID:1740503
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102832626G>T , CM000672.2:g.102832626G>T | GRCh38 |
| NC_000010.10:g.104592383G>T , CM000672.1:g.104592383G>T | GRCh37 |
| NC_000010.9:g.104582373G>T | NCBI36 |
| NG_007955.1:g.9908C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.1024C>A (CYP17A1) MANE Select | ENSP00000358903.3:p.Pro342Thr | |
| ENST00000638190.1:c.721C>A (CYP17A1) | ENSP00000492539.1:p.Pro241Thr | |
| ENST00000638272.1:c.568C>A (CYP17A1) | ENSP00000491508.1:p.Pro190Thr | |
| ENST00000638971.1:c.937C>A (CYP17A1) | ENSP00000492313.1:p.Pro313Thr | |
| ENST00000639393.1:c.1024C>A (CYP17A1) | ENSP00000492651.1:p.Pro342Thr | |
| ENST00000640633.1:n.786C>A (CYP17A1) | ||
| ENST00000647664.1:c.*1657G>T (WBP1L) | ENSP00000498131.1:n.*1657G>T | |
| ENST00000369887.3:c.1024C>A (CYP17A1) | ENSP00000358903.3:p.Pro342Thr | |
| NM_000102.3:c.1024C>A (CYP17A1) | NP_000093.1:p.Pro342Thr | |
| NM_000102.4:c.1024C>A (CYP17A1) MANE Select | NP_000093.1:p.Pro342Thr |