Linked Data
dbSNP Id:
rs1369059288
gnomAD v2:
X-53432464-A-G
gnomAD v4:
X-53405532-A-G
MyVariant Identifiers:
chrX:g.53432464A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53405532A>G , CM000685.2:g.53405532A>G | GRCh38 |
| NC_000023.10:g.53432464A>G , CM000685.1:g.53432464A>G | GRCh37 |
| NC_000023.9:g.53449189A>G | NCBI36 |
| NG_006988.2:g.22139T>C , LRG_773:g.22139T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.1872T>C MANE Select | ENSP00000323421.3:p.Asp624= | |
| ENST00000674590.1:c.1104T>C | ENSP00000502626.1:p.Asp368= | |
| ENST00000675065.1:n.1224T>C | ||
| ENST00000675504.1:c.1806T>C | ENSP00000502524.1:p.Asp602= | |
| ENST00000322213.8:c.1872T>C | ENSP00000323421.3:p.Asp624= | |
| ENST00000375340.10:c.1806T>C | ENSP00000364489.7:p.Asp602= | |
| NM_001281463.1:c.1806T>C , LRG_773t1:c.1806T>C | NP_001268392.1:p.Asp602= | |
| NM_006306.3:c.1872T>C , LRG_773t2:c.1872T>C | NP_006297.2:p.Asp624= | |
| NM_006306.4:c.1872T>C MANE Select | NP_006297.2:p.Asp624= |