Linked Data
dbSNP Id:
rs2068715513
gnomAD v3:
X-108695317-T-G
gnomAD v4:
X-108695317-T-G
MyVariant Identifiers:
chrX:g.107938547T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108695317T>G , CM000685.2:g.108695317T>G | GRCh38 |
| NC_000023.10:g.107938547T>G , CM000685.1:g.107938547T>G | GRCh37 |
| NC_000023.9:g.107825203T>G | NCBI36 |
| NG_011977.1:g.260394T>G | |
| NG_011977.2:g.260394T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4872T>G MANE Select | ENSP00000331902.7:p.Gly1624= | |
| ENST00000361603.7:c.4854T>G | ENSP00000354505.2:p.Gly1618= | |
| ENST00000510690.2:n.1366T>G | ||
| ENST00000644079.1:n.1703T>G | ||
| ENST00000328300.10:c.4872T>G | ENSP00000331902.6:p.Gly1624= | |
| ENST00000361603.6:c.4854T>G | ENSP00000354505.2:p.Gly1618= | |
| ENST00000504541.1:c.219+396T>G | ENSP00000424845.1:n.219+396T>G | |
| ENST00000515658.1:c.325-980T>G | ||
| NM_000495.4:c.4854T>G | NP_000486.1:p.Gly1618= | |
| NM_033380.2:c.4872T>G | NP_203699.1:p.Gly1624= | |
| XM_005262070.2:c.4863T>G | XP_005262127.1:p.Gly1621= | |
| XM_006724616.2:c.4872T>G | XP_006724679.1:p.Gly1624= | |
| XM_011530849.1:c.4548T>G | XP_011529151.1:p.Gly1516= | |
| XM_011530851.1:c.2445T>G | XP_011529153.1:p.Gly815= | |
| XM_011530849.2:c.4887T>G | XP_011529151.2:p.Gly1629= | |
| XM_017029259.2:c.4878T>G | XP_016884748.1:p.Gly1626= | |
| XM_017029260.1:c.4869T>G | XP_016884749.1:p.Gly1623= | |
| XM_017029263.2:c.3207T>G | XP_016884752.1:p.Gly1069= | |
| NM_000495.5:c.4854T>G | NP_000486.1:p.Gly1618= | |
| NM_033380.3:c.4872T>G MANE Select | NP_203699.1:p.Gly1624= |