Linked Data
ClinVar Variation Id:
17821
ClinVar RCV Id:
RCV000019399
dbSNP Id:
rs80051519
gnomAD v2:
15-51504686-C-T
gnomAD v3:
15-51212489-C-T
gnomAD v4:
15-51212489-C-T
PubMed:
PMID:9211678
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51212489C>T , CM000677.2:g.51212489C>T | GRCh38 |
| NC_000015.9:g.51504686C>T , CM000677.1:g.51504686C>T | GRCh37 |
| NC_000015.8:g.49291978C>T | NCBI36 |
| NG_007982.1:g.131110G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396402.6:c.1094G>A (CYP19A1) MANE Select | ENSP00000379683.1:p.Arg365Gln | |
| ENST00000260433.6:c.1094G>A (CYP19A1) | ENSP00000260433.2:p.Arg365Gln | |
| ENST00000396402.5:c.1094G>A (CYP19A1) | ENSP00000379683.1:p.Arg365Gln | |
| ENST00000396404.8:c.1094G>A (CYP19A1) | ENSP00000379685.4:p.Arg365Gln | |
| ENST00000490076.2:n.521G>A (CYP19A1) | ||
| ENST00000559653.1:c.228G>A (CYP19A1) | ||
| ENST00000559878.5:c.1094G>A (CYP19A1) | ENSP00000453149.1:p.Arg365Gln | |
| NM_000103.3:c.1094G>A (CYP19A1) | NP_000094.2:p.Arg365Gln | |
| NM_031226.2:c.1094G>A (CYP19A1) | NP_112503.1:p.Arg365Gln | |
| XM_005254190.1:c.1094G>A (CYP19A1) | XP_005254247.1:p.Arg365Gln | |
| XM_005254191.1:c.1094G>A (CYP19A1) | XP_005254248.1:p.Arg365Gln | |
| XR_932222.1:n.99-65494C>T (PIRC66) | ||
| NM_001347248.1:c.1094G>A (CYP19A1) | NP_001334177.1:p.Arg365Gln | |
| NM_001347249.1:c.1094G>A (CYP19A1) | NP_001334178.1:p.Arg365Gln | |
| NM_001347250.1:c.1094G>A (CYP19A1) | NP_001334179.1:p.Arg365Gln | |
| NM_001347251.1:c.1094G>A (CYP19A1) | NP_001334180.1:p.Arg365Gln | |
| NM_001347252.1:c.1094G>A (CYP19A1) | NP_001334181.1:p.Arg365Gln | |
| NM_001347253.1:c.1094G>A (CYP19A1) | NP_001334182.1:p.Arg365Gln | |
| NM_001347254.1:c.1094G>A (CYP19A1) | NP_001334183.1:p.Arg365Gln | |
| NM_001347255.1:c.1094G>A (CYP19A1) | NP_001334184.1:p.Arg365Gln | |
| NM_001347256.1:c.1094G>A (CYP19A1) | NP_001334185.1:p.Arg365Gln | |
| NR_146310.1:n.195-65494C>T (MIR4713HG) | ||
| NM_000103.4:c.1094G>A (CYP19A1) MANE Select | NP_000094.2:p.Arg365Gln | |
| NM_001347249.2:c.1094G>A (CYP19A1) | NP_001334178.1:p.Arg365Gln | |
| NM_001347255.2:c.1094G>A (CYP19A1) | NP_001334184.1:p.Arg365Gln | |
| NM_001347256.2:c.1094G>A (CYP19A1) | NP_001334185.1:p.Arg365Gln | |
| NM_031226.3:c.1094G>A (CYP19A1) | NP_112503.1:p.Arg365Gln | |
| NM_001347250.2:c.1094G>A (CYP19A1) | NP_001334179.1:p.Arg365Gln | |
| NM_001347251.2:c.1094G>A (CYP19A1) | NP_001334180.1:p.Arg365Gln | |
| NM_001347252.2:c.1094G>A (CYP19A1) | NP_001334181.1:p.Arg365Gln | |
| NM_001347253.2:c.1094G>A (CYP19A1) | NP_001334182.1:p.Arg365Gln | |
| NM_001347254.2:c.1094G>A (CYP19A1) | NP_001334183.1:p.Arg365Gln |