Linked Data
ClinVar Variation Id:
17818
ClinVar RCV Id:
RCV000019396
dbSNP Id:
rs121434536
ExAC:
15:51504657 G / A
gnomAD v2:
15-51504657-G-A
gnomAD v3:
15-51212460-G-A
gnomAD v4:
15-51212460-G-A
COSMIC:
COSM4055489
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51212460G>A , CM000677.2:g.51212460G>A | GRCh38 |
| NC_000015.9:g.51504657G>A , CM000677.1:g.51504657G>A | GRCh37 |
| NC_000015.8:g.49291949G>A | NCBI36 |
| NG_007982.1:g.131139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396402.6:c.1123C>T (CYP19A1) MANE Select | ENSP00000379683.1:p.Arg375Cys | |
| ENST00000260433.6:c.1123C>T (CYP19A1) | ENSP00000260433.2:p.Arg375Cys | |
| ENST00000396402.5:c.1123C>T (CYP19A1) | ENSP00000379683.1:p.Arg375Cys | |
| ENST00000396404.8:c.1123C>T (CYP19A1) | ENSP00000379685.4:p.Arg375Cys | |
| ENST00000490076.2:n.550C>T (CYP19A1) | ||
| ENST00000559653.1:c.257C>T (CYP19A1) | ||
| ENST00000559878.5:c.1123C>T (CYP19A1) | ENSP00000453149.1:p.Arg375Cys | |
| NM_000103.3:c.1123C>T (CYP19A1) | NP_000094.2:p.Arg375Cys | |
| NM_031226.2:c.1123C>T (CYP19A1) | NP_112503.1:p.Arg375Cys | |
| XM_005254190.1:c.1123C>T (CYP19A1) | XP_005254247.1:p.Arg375Cys | |
| XM_005254191.1:c.1123C>T (CYP19A1) | XP_005254248.1:p.Arg375Cys | |
| XR_932222.1:n.99-65523G>A (PIRC66) | ||
| NM_001347248.1:c.1123C>T (CYP19A1) | NP_001334177.1:p.Arg375Cys | |
| NM_001347249.1:c.1123C>T (CYP19A1) | NP_001334178.1:p.Arg375Cys | |
| NM_001347250.1:c.1123C>T (CYP19A1) | NP_001334179.1:p.Arg375Cys | |
| NM_001347251.1:c.1123C>T (CYP19A1) | NP_001334180.1:p.Arg375Cys | |
| NM_001347252.1:c.1123C>T (CYP19A1) | NP_001334181.1:p.Arg375Cys | |
| NM_001347253.1:c.1123C>T (CYP19A1) | NP_001334182.1:p.Arg375Cys | |
| NM_001347254.1:c.1123C>T (CYP19A1) | NP_001334183.1:p.Arg375Cys | |
| NM_001347255.1:c.1123C>T (CYP19A1) | NP_001334184.1:p.Arg375Cys | |
| NM_001347256.1:c.1123C>T (CYP19A1) | NP_001334185.1:p.Arg375Cys | |
| NR_146310.1:n.195-65523G>A (MIR4713HG) | ||
| NM_000103.4:c.1123C>T (CYP19A1) MANE Select | NP_000094.2:p.Arg375Cys | |
| NM_001347249.2:c.1123C>T (CYP19A1) | NP_001334178.1:p.Arg375Cys | |
| NM_001347255.2:c.1123C>T (CYP19A1) | NP_001334184.1:p.Arg375Cys | |
| NM_001347256.2:c.1123C>T (CYP19A1) | NP_001334185.1:p.Arg375Cys | |
| NM_031226.3:c.1123C>T (CYP19A1) | NP_112503.1:p.Arg375Cys | |
| NM_001347250.2:c.1123C>T (CYP19A1) | NP_001334179.1:p.Arg375Cys | |
| NM_001347251.2:c.1123C>T (CYP19A1) | NP_001334180.1:p.Arg375Cys | |
| NM_001347252.2:c.1123C>T (CYP19A1) | NP_001334181.1:p.Arg375Cys | |
| NM_001347253.2:c.1123C>T (CYP19A1) | NP_001334182.1:p.Arg375Cys | |
| NM_001347254.2:c.1123C>T (CYP19A1) | NP_001334183.1:p.Arg375Cys |