Linked Data
dbSNP Id:
rs1569541001
gnomAD v2:
X-153001597-A-C
gnomAD v4:
X-153736143-A-C
MyVariant Identifiers:
chrX:g.153001597A>C (hg19)
chrX:g.153001597_153001600delinsCAAG (hg19)
chrX:g.153736143A>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736143A>C , CM000685.2:g.153736143A>C | GRCh38 |
| NC_000023.10:g.153001597A>C , CM000685.1:g.153001597A>C | GRCh37 |
| NC_000023.9:g.152654791A>C | NCBI36 |
| NG_009022.2:g.16276A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1113A>C MANE Select | ENSP00000218104.3:p.Glu371Asp | |
| ENST00000218104.5:c.1113A>C | ENSP00000218104.3:p.Glu371Asp | |
| ENST00000443684.2:n.116A>C | ||
| NM_000033.3:c.1113A>C | NP_000024.2:p.Glu371Asp | |
| XR_938507.1:n.1529A>C | ||
| XR_938507.2:n.1529A>C | ||
| NM_000033.4:c.1113A>C MANE Select | NP_000024.2:p.Glu371Asp |