Linked Data
ClinVar Variation Id:
207393
dbSNP Id:
rs369663551
ExAC:
X:99921862 G / A
gnomAD v2:
X-99921862-G-A
gnomAD v3:
X-100666865-G-A
gnomAD v4:
X-100666865-G-A
COSMIC:
COSM6027859
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100666865G>A , CM000685.2:g.100666865G>A | GRCh38 |
| NC_000023.10:g.99921862G>A , CM000685.1:g.99921862G>A | GRCh37 |
| NC_000023.9:g.99808518G>A | NCBI36 |
| NG_021337.1:g.27700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373004.5:c.893G>A MANE Select | ENSP00000362095.3:p.Arg298His | |
| ENST00000638458.1:c.917G>A | ENSP00000492168.1:p.Arg306His | |
| ENST00000638920.1:n.896G>A | ||
| ENST00000677630.1:n.827G>A | ||
| ENST00000679590.1:n.926G>A | ||
| ENST00000373004.3:c.893G>A | ENSP00000362095.3:p.Arg298His | |
| NM_014467.2:c.893G>A | NP_055282.1:p.Arg298His | |
| XM_005262121.2:c.893G>A | XP_005262178.1:p.Arg298His | |
| NM_014467.3:c.893G>A MANE Select | NP_055282.1:p.Arg298His |