Linked Data
dbSNP Id:
rs1923130856
gnomAD v3:
X-50916253-G-A
gnomAD v4:
X-50916253-G-A
COSMIC:
COSM5412821
MyVariant Identifiers:
chrX:g.50659253G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50916253G>A , CM000685.2:g.50916253G>A | GRCh38 |
| NC_000023.10:g.50659253G>A , CM000685.1:g.50659253G>A | GRCh37 |
| NC_000023.9:g.50675993G>A | NCBI36 |
| NG_012894.1:g.10470G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.825G>A MANE Select | ENSP00000252677.3:p.Glu275= | |
| ENST00000252677.3:c.825G>A | ENSP00000252677.3:p.Glu275= | |
| NM_005448.2:c.825G>A MANE Select | NP_005439.2:p.Glu275= |