Linked Data
ClinVar Variation Id:
2660600
ClinVar RCV Id:
RCV003438374
gnomAD v3:
X-53235143-T-G
gnomAD v4:
X-53235143-T-G
MyVariant Identifiers:
chrX:g.53264325T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53235143T>G , CM000685.2:g.53235143T>G | GRCh38 |
| NC_000023.10:g.53264325T>G , CM000685.1:g.53264325T>G | GRCh37 |
| NC_000023.9:g.53281050T>G | NCBI36 |
| NG_021296.1:g.91198A>C | |
| NG_021296.2:g.91208A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.3702A>C | ENSP00000516672.1:p.Pro1234= | |
| ENST00000638521.1:c.1453+640A>C | ||
| ENST00000638869.1:c.962+640A>C | ||
| ENST00000639796.1:c.316+1179A>C | ENSP00000492252.1:n.316+1179A>C | |
| ENST00000640005.1:c.514+1179A>C | ENSP00000491293.1:n.514+1179A>C | |
| ENST00000640436.1:n.523A>C | ||
| ENST00000640694.1:c.*28A>C | ENSP00000492403.1:n.*28A>C | |
| ENST00000642864.1:c.3543A>C MANE Select | ENSP00000495726.1:p.Pro1181= | |
| ENST00000674510.1:c.3543A>C | ENSP00000502054.1:p.Pro1181= | |
| ENST00000675719.1:c.3513A>C | ENSP00000501927.1:p.Pro1171= | |
| ENST00000375365.2:c.*28A>C | ENSP00000364514.2:n.*28A>C | |
| ENST00000396435.7:c.3543A>C | ENSP00000379712.3:p.Pro1181= | |
| NM_001111125.2:c.3543A>C | NP_001104595.1:p.Pro1181= | |
| NM_015075.1:c.*28A>C | NP_055890.1:n.*28A>C | |
| XM_006724579.2:c.3639A>C | XP_006724642.1:p.Pro1213= | |
| XM_006724580.2:c.2928A>C | XP_006724643.1:p.Pro976= | |
| XM_006724581.2:c.3597+640A>C | XP_006724644.1:n.3597+640A>C | |
| XM_006724582.2:c.3597+640A>C | XP_006724645.1:n.3597+640A>C | |
| XM_006724583.2:c.3547+1179A>C | XP_006724646.1:n.3547+1179A>C | |
| XM_006724584.2:c.*28A>C | XP_006724647.1:n.*28A>C | |
| XM_011530772.1:c.2865A>C | XP_011529074.1:p.Pro955= | |
| XM_011530773.1:c.2832A>C | XP_011529075.1:p.Pro944= | |
| XM_011530775.1:c.3547+1179A>C | XP_011529077.1:n.3547+1179A>C | |
| XM_006724579.3:c.3639A>C | XP_006724642.1:p.Pro1213= | |
| XM_006724580.3:c.2928A>C | XP_006724643.1:p.Pro976= | |
| XM_006724581.4:c.3597+640A>C | XP_006724644.1:n.3597+640A>C | |
| XM_006724582.4:c.3597+640A>C | XP_006724645.1:n.3597+640A>C | |
| XM_006724583.4:c.3547+1179A>C | XP_006724646.1:n.3547+1179A>C | |
| XM_006724584.3:c.*28A>C | XP_006724647.1:n.*28A>C | |
| XM_011530773.2:c.2832A>C | XP_011529075.1:p.Pro944= | |
| XM_017029359.2:c.3513A>C | XP_016884848.1:p.Pro1171= | |
| XM_017029360.1:c.3045A>C | XP_016884849.1:p.Pro1015= | |
| NM_001111125.3:c.3543A>C MANE Select | NP_001104595.1:p.Pro1181= | |
| NM_015075.2:c.*28A>C | NP_055890.1:n.*28A>C |