Linked Data
ClinVar Variation Id:
423803
dbSNP Id:
rs1064796639
gnomAD v2:
X-53263409-C-T
gnomAD v4:
X-53234227-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53234227C>T , CM000685.2:g.53234227C>T | GRCh38 |
| NC_000023.10:g.53263409C>T , CM000685.1:g.53263409C>T | GRCh37 |
| NC_000023.9:g.53280134C>T | NCBI36 |
| NG_021296.1:g.92114G>A | |
| NG_021296.2:g.92124G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.4618G>A | ENSP00000516672.1:p.Val1540Met | |
| ENST00000638521.1:c.1453+1556G>A | ||
| ENST00000638869.1:c.962+1556G>A | ||
| ENST00000639796.1:c.316+2095G>A | ENSP00000492252.1:n.316+2095G>A | |
| ENST00000640005.1:c.514+2095G>A | ENSP00000491293.1:n.514+2095G>A | |
| ENST00000640694.1:c.*944G>A | ENSP00000492403.1:n.*944G>A | |
| ENST00000642864.1:c.4459G>A MANE Select | ENSP00000495726.1:p.Val1487Met | |
| ENST00000674510.1:c.4459G>A | ENSP00000502054.1:p.Val1487Met | |
| ENST00000675719.1:c.4429G>A | ENSP00000501927.1:p.Val1477Met | |
| ENST00000375365.2:c.*944G>A | ENSP00000364514.2:n.*944G>A | |
| ENST00000396435.7:c.4459G>A | ENSP00000379712.3:p.Val1487Met | |
| NM_001111125.2:c.4459G>A | NP_001104595.1:p.Val1487Met | |
| NM_015075.1:c.*944G>A | NP_055890.1:n.*944G>A | |
| XM_006724579.2:c.4555G>A | XP_006724642.1:p.Val1519Met | |
| XM_006724580.2:c.3844G>A | XP_006724643.1:p.Val1282Met | |
| XM_006724581.2:c.3597+1556G>A | XP_006724644.1:n.3597+1556G>A | |
| XM_006724582.2:c.3597+1556G>A | XP_006724645.1:n.3597+1556G>A | |
| XM_006724583.2:c.3547+2095G>A | XP_006724646.1:n.3547+2095G>A | |
| XM_011530772.1:c.3781G>A | XP_011529074.1:p.Val1261Met | |
| XM_011530773.1:c.3748G>A | XP_011529075.1:p.Val1250Met | |
| XM_011530775.1:c.3547+2095G>A | XP_011529077.1:n.3547+2095G>A | |
| XM_006724579.3:c.4555G>A | XP_006724642.1:p.Val1519Met | |
| XM_006724580.3:c.3844G>A | XP_006724643.1:p.Val1282Met | |
| XM_006724581.4:c.3597+1556G>A | XP_006724644.1:n.3597+1556G>A | |
| XM_006724582.4:c.3597+1556G>A | XP_006724645.1:n.3597+1556G>A | |
| XM_006724583.4:c.3547+2095G>A | XP_006724646.1:n.3547+2095G>A | |
| XM_006724584.3:c.*944G>A | XP_006724647.1:n.*944G>A | |
| XM_011530773.2:c.3748G>A | XP_011529075.1:p.Val1250Met | |
| XM_017029359.2:c.4429G>A | XP_016884848.1:p.Val1477Met | |
| XM_017029360.1:c.3961G>A | XP_016884849.1:p.Val1321Met | |
| NM_001111125.3:c.4459G>A MANE Select | NP_001104595.1:p.Val1487Met | |
| NM_015075.2:c.*944G>A | NP_055890.1:n.*944G>A |