Linked Data
ClinVar Variation Id:
17817
ClinVar RCV Id:
RCV000019395
dbSNP Id:
rs786205107
gnomAD v4:
15-51218539-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51218539A>G , CM000677.2:g.51218539A>G | GRCh38 |
| NC_000015.9:g.51510736A>G , CM000677.1:g.51510736A>G | GRCh37 |
| NC_000015.8:g.49298028A>G | NCBI36 |
| NG_007982.1:g.125060T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396402.6:c.743+2T>C (CYP19A1) MANE Select | ENSP00000379683.1:n.743+2T>C | |
| ENST00000260433.6:c.743+2T>C (CYP19A1) | ENSP00000260433.2:n.743+2T>C | |
| ENST00000396402.5:c.743+2T>C (CYP19A1) | ENSP00000379683.1:n.743+2T>C | |
| ENST00000396404.8:c.743+2T>C (CYP19A1) | ENSP00000379685.4:n.743+2T>C | |
| ENST00000439712.6:c.743+2T>C (CYP19A1) | ENSP00000390614.2:n.743+2T>C | |
| ENST00000478421.1:n.10T>C (CYP19A1) | ||
| ENST00000557934.5:c.743+2T>C (CYP19A1) | ENSP00000454004.1:n.743+2T>C | |
| ENST00000558066.1:n.121+2T>C (CYP19A1) | ||
| ENST00000558328.5:c.743+2T>C (CYP19A1) | ENSP00000453280.1:n.743+2T>C | |
| ENST00000559878.5:c.743+2T>C (CYP19A1) | ENSP00000453149.1:n.743+2T>C | |
| ENST00000561075.5:c.566+2T>C (CYP19A1) | ENSP00000454039.1:n.566+2T>C | |
| ENST00000613097.1:c.9+1T>C (CYP19A1) | ENSP00000479587.1:n.9+1T>C | |
| NM_000103.3:c.743+2T>C (CYP19A1) | NP_000094.2:n.743+2T>C | |
| NM_031226.2:c.743+2T>C (CYP19A1) | NP_112503.1:n.743+2T>C | |
| XM_005254190.1:c.743+2T>C (CYP19A1) | XP_005254247.1:n.743+2T>C | |
| XM_005254191.1:c.743+2T>C (CYP19A1) | XP_005254248.1:n.743+2T>C | |
| XR_932222.1:n.99-59444A>G (PIRC66) | ||
| NM_001347248.1:c.743+2T>C (CYP19A1) | NP_001334177.1:n.743+2T>C | |
| NM_001347249.1:c.743+2T>C (CYP19A1) | NP_001334178.1:n.743+2T>C | |
| NM_001347250.1:c.743+2T>C (CYP19A1) | NP_001334179.1:n.743+2T>C | |
| NM_001347251.1:c.743+2T>C (CYP19A1) | NP_001334180.1:n.743+2T>C | |
| NM_001347252.1:c.743+2T>C (CYP19A1) | NP_001334181.1:n.743+2T>C | |
| NM_001347253.1:c.743+2T>C (CYP19A1) | NP_001334182.1:n.743+2T>C | |
| NM_001347254.1:c.743+2T>C (CYP19A1) | NP_001334183.1:n.743+2T>C | |
| NM_001347255.1:c.743+2T>C (CYP19A1) | NP_001334184.1:n.743+2T>C | |
| NM_001347256.1:c.743+2T>C (CYP19A1) | NP_001334185.1:n.743+2T>C | |
| NR_146310.1:n.195-59444A>G (MIR4713HG) | ||
| NM_000103.4:c.743+2T>C (CYP19A1) MANE Select | NP_000094.2:n.743+2T>C | |
| NM_001347249.2:c.743+2T>C (CYP19A1) | NP_001334178.1:n.743+2T>C | |
| NM_001347255.2:c.743+2T>C (CYP19A1) | NP_001334184.1:n.743+2T>C | |
| NM_001347256.2:c.743+2T>C (CYP19A1) | NP_001334185.1:n.743+2T>C | |
| NM_031226.3:c.743+2T>C (CYP19A1) | NP_112503.1:n.743+2T>C | |
| NM_001347250.2:c.743+2T>C (CYP19A1) | NP_001334179.1:n.743+2T>C | |
| NM_001347251.2:c.743+2T>C (CYP19A1) | NP_001334180.1:n.743+2T>C | |
| NM_001347252.2:c.743+2T>C (CYP19A1) | NP_001334181.1:n.743+2T>C | |
| NM_001347253.2:c.743+2T>C (CYP19A1) | NP_001334182.1:n.743+2T>C | |
| NM_001347254.2:c.743+2T>C (CYP19A1) | NP_001334183.1:n.743+2T>C |