Linked Data
ClinVar Variation Id:
349025
ClinVar RCV Id:
RCV000400935
dbSNP Id:
rs115046277
gnomAD v2:
4-56237587-T-C
gnomAD v3:
4-55371420-T-C
gnomAD v4:
4-55371420-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55371420T>C , CM000666.2:g.55371420T>C | GRCh38 |
| NC_000004.11:g.56237587T>C , CM000666.1:g.56237587T>C | GRCh37 |
| NC_000004.10:g.55932344T>C | NCBI36 |
| NG_028230.1:g.30200T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.*1329T>C (SRD5A3) MANE Select | ENSP00000264228.4:n.*1329T>C | |
| ENST00000678717.1:n.2183T>C (SRD5A3) | ||
| ENST00000679351.1:c.*1007-254T>C | ENSP00000505676.1:n.*1007-254T>C | |
| ENST00000679707.1:c.563-254T>C | ENSP00000505713.1:n.563-254T>C | |
| ENST00000679836.1:c.*1329T>C (SRD5A3) | ENSP00000506601.1:n.*1329T>C | |
| ENST00000680700.1:c.562+7149T>C | ENSP00000504926.1:n.562+7149T>C | |
| ENST00000264228.8:c.*1329T>C (SRD5A3) | ENSP00000264228.4:n.*1329T>C | |
| NM_024592.4:c.*1329T>C (SRD5A3) | NP_078868.1:n.*1329T>C | |
| NR_037969.1:n.363+3451A>G (SRD5A3-AS1) | ||
| XM_005265766.2:c.*1329T>C (SRD5A3) | XP_005265823.1:n.*1329T>C | |
| XM_005265767.2:c.*1329T>C (SRD5A3) | XP_005265824.1:n.*1329T>C | |
| XM_005265766.4:c.*1329T>C (SRD5A3) | XP_005265823.1:n.*1329T>C | |
| XM_005265767.3:c.*1329T>C (SRD5A3) | XP_005265824.1:n.*1329T>C | |
| XM_017008601.1:c.*1329T>C (SRD5A3) | XP_016864090.1:n.*1329T>C | |
| NM_024592.5:c.*1329T>C (SRD5A3) MANE Select | NP_078868.1:n.*1329T>C |