Linked Data
dbSNP Id:
rs1556889545
gnomAD v2:
X-53432315-T-C
gnomAD v4:
X-53405383-T-C
MyVariant Identifiers:
chrX:g.53432315T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53405383T>C , CM000685.2:g.53405383T>C | GRCh38 |
| NC_000023.10:g.53432315T>C , CM000685.1:g.53432315T>C | GRCh37 |
| NC_000023.9:g.53449040T>C | NCBI36 |
| NG_006988.2:g.22288A>G , LRG_773:g.22288A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.1920A>G MANE Select | ENSP00000323421.3:p.Ala640= | |
| ENST00000674590.1:c.1152A>G | ENSP00000502626.1:p.Ala384= | |
| ENST00000675065.1:n.1272A>G | ||
| ENST00000675504.1:c.1854A>G | ENSP00000502524.1:p.Ala618= | |
| ENST00000322213.8:c.1920A>G | ENSP00000323421.3:p.Ala640= | |
| ENST00000375340.10:c.1854A>G | ENSP00000364489.7:p.Ala618= | |
| NM_001281463.1:c.1854A>G , LRG_773t1:c.1854A>G | NP_001268392.1:p.Ala618= | |
| NM_006306.3:c.1920A>G , LRG_773t2:c.1920A>G | NP_006297.2:p.Ala640= | |
| NM_006306.4:c.1920A>G MANE Select | NP_006297.2:p.Ala640= |