Identifiers and link-outs to other resources
ClinVar Variation Id:
10509
ClinVar RCV Id:
RCV000011255
dbSNP Id:
rs104894916
gnomAD:
X:153461425 G / A
User contributed link-outs
Pubmed:
PMID:12051694
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154195934G>A , CM000685.2:g.154195934G>A | GRCh38 |
| NC_000023.10:g.153461425G>A , CM000685.1:g.153461425G>A | GRCh37 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000595290.5:c.989G>A | ENSP00000472316.1:p.Arg330Gln | |
| ENST00000596998.2:n.387G>A | ||
| NM_000513.2:c.989G>A VV | NP_000504.1:p.Arg330Gln |