Linked Data
ClinVar Variation Id:
1271411
ClinVar RCV Id:
RCV001681460
dbSNP Id:
rs17115100
ExAC:
10:104591393 G / T
gnomAD v2:
10-104591393-G-T
gnomAD v3:
10-102831636-G-T
gnomAD v4:
10-102831636-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102831636G>T , CM000672.2:g.102831636G>T | GRCh38 |
| NC_000010.10:g.104591393G>T , CM000672.1:g.104591393G>T | GRCh37 |
| NC_000010.9:g.104581383G>T | NCBI36 |
| NG_007955.1:g.10898C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369887.4:c.1140-25C>A (CYP17A1) MANE Select | ENSP00000358903.3:n.1140-25C>A | |
| ENST00000638190.1:c.837-25C>A (CYP17A1) | ENSP00000492539.1:n.837-25C>A | |
| ENST00000638272.1:c.684-25C>A (CYP17A1) | ENSP00000491508.1:n.684-25C>A | |
| ENST00000638971.1:c.1053-25C>A (CYP17A1) | ENSP00000492313.1:n.1053-25C>A | |
| ENST00000639393.1:c.1140-22C>A (CYP17A1) | ENSP00000492651.1:n.1140-22C>A | |
| ENST00000640633.1:n.902-25C>A (CYP17A1) | ||
| ENST00000647664.1:c.*667G>T (WBP1L) | ENSP00000498131.1:n.*667G>T | |
| ENST00000369887.3:c.1140-25C>A (CYP17A1) | ENSP00000358903.3:n.1140-25C>A | |
| ENST00000469683.1:n.68C>A (CYP17A1) | ||
| NM_000102.3:c.1140-25C>A (CYP17A1) | NP_000093.1:n.1140-25C>A | |
| NM_000102.4:c.1140-25C>A (CYP17A1) MANE Select | NP_000093.1:n.1140-25C>A |