Linked Data
dbSNP Id:
rs1556862446
gnomAD v3:
X-53248185-G-C
gnomAD v4:
X-53248185-G-C
MyVariant Identifiers:
chrX:g.53277367G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53248185G>C , CM000685.2:g.53248185G>C | GRCh38 |
| NC_000023.10:g.53277367G>C , CM000685.1:g.53277367G>C | GRCh37 |
| NC_000023.9:g.53294092G>C | NCBI36 |
| NG_021296.1:g.78156C>G | |
| NG_021296.2:g.78166C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.2670C>G | ENSP00000516672.1:p.Leu890= | |
| ENST00000638521.1:c.463C>G | ||
| ENST00000640694.1:c.2511C>G | ENSP00000492403.1:p.Leu837= | |
| ENST00000642864.1:c.2511C>G MANE Select | ENSP00000495726.1:p.Leu837= | |
| ENST00000674510.1:c.2511C>G | ENSP00000502054.1:p.Leu837= | |
| ENST00000674761.1:n.262C>G | ||
| ENST00000675719.1:c.2481C>G | ENSP00000501927.1:p.Leu827= | |
| ENST00000375365.2:c.1896C>G | ENSP00000364514.2:p.Leu632= | |
| ENST00000396435.7:c.2511C>G | ENSP00000379712.3:p.Leu837= | |
| NM_001111125.2:c.2511C>G | NP_001104595.1:p.Leu837= | |
| NM_015075.1:c.1896C>G | NP_055890.1:p.Leu632= | |
| XM_006724579.2:c.2607C>G | XP_006724642.1:p.Leu869= | |
| XM_006724580.2:c.1896C>G | XP_006724643.1:p.Leu632= | |
| XM_006724581.2:c.2607C>G | XP_006724644.1:p.Leu869= | |
| XM_006724582.2:c.2607C>G | XP_006724645.1:p.Leu869= | |
| XM_006724583.2:c.2607C>G | XP_006724646.1:p.Leu869= | |
| XM_006724584.2:c.2607C>G | XP_006724647.1:p.Leu869= | |
| XM_011530772.1:c.1833C>G | XP_011529074.1:p.Leu611= | |
| XM_011530773.1:c.1800C>G | XP_011529075.1:p.Leu600= | |
| XM_011530774.1:c.2607C>G | XP_011529076.1:p.Leu869= | |
| XM_011530775.1:c.2607C>G | XP_011529077.1:p.Leu869= | |
| XM_011530776.1:c.2607C>G | XP_011529078.1:p.Leu869= | |
| XM_011530777.1:c.2607C>G | XP_011529079.1:p.Leu869= | |
| XR_938365.1:n.2834C>G | ||
| XM_006724579.3:c.2607C>G | XP_006724642.1:p.Leu869= | |
| XM_006724580.3:c.1896C>G | XP_006724643.1:p.Leu632= | |
| XM_006724581.4:c.2607C>G | XP_006724644.1:p.Leu869= | |
| XM_006724582.4:c.2607C>G | XP_006724645.1:p.Leu869= | |
| XM_006724583.4:c.2607C>G | XP_006724646.1:p.Leu869= | |
| XM_006724584.3:c.2607C>G | XP_006724647.1:p.Leu869= | |
| XM_011530773.2:c.1800C>G | XP_011529075.1:p.Leu600= | |
| XM_011530774.3:c.2607C>G | XP_011529076.1:p.Leu869= | |
| XM_011530776.2:c.2607C>G | XP_011529078.1:p.Leu869= | |
| XM_011530777.2:c.2607C>G | XP_011529079.1:p.Leu869= | |
| XM_017029359.2:c.2481C>G | XP_016884848.1:p.Leu827= | |
| XM_017029360.1:c.2013C>G | XP_016884849.1:p.Leu671= | |
| XR_938365.2:n.2828C>G | ||
| NM_001111125.3:c.2511C>G MANE Select | NP_001104595.1:p.Leu837= | |
| NM_015075.2:c.1896C>G | NP_055890.1:p.Leu632= |