Linked Data
ClinVar Variation Id:
971808
dbSNP Id:
rs2074227300
gnomAD v3:
X-53241891-G-A
gnomAD v4:
X-53241891-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53241891G>A , CM000685.2:g.53241891G>A | GRCh38 |
| NC_000023.10:g.53271073G>A , CM000685.1:g.53271073G>A | GRCh37 |
| NC_000023.9:g.53287798G>A | NCBI36 |
| NG_021296.1:g.84450C>T | |
| NG_021296.2:g.84460C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.3067C>T | ENSP00000516672.1:p.Arg1023Cys | |
| ENST00000638521.1:c.860C>T | ||
| ENST00000638869.1:c.369C>T | ||
| ENST00000639642.1:c.198C>T | ||
| ENST00000640694.1:c.2908C>T | ENSP00000492403.1:p.Arg970Cys | |
| ENST00000642864.1:c.2908C>T MANE Select | ENSP00000495726.1:p.Arg970Cys | |
| ENST00000674510.1:c.2908C>T | ENSP00000502054.1:p.Arg970Cys | |
| ENST00000674761.1:n.1215C>T | ||
| ENST00000675719.1:c.2878C>T | ENSP00000501927.1:p.Arg960Cys | |
| ENST00000375365.2:c.2293C>T | ENSP00000364514.2:p.Arg765Cys | |
| ENST00000396435.7:c.2908C>T | ENSP00000379712.3:p.Arg970Cys | |
| NM_001111125.2:c.2908C>T | NP_001104595.1:p.Arg970Cys | |
| NM_015075.1:c.2293C>T | NP_055890.1:p.Arg765Cys | |
| XM_006724579.2:c.3004C>T | XP_006724642.1:p.Arg1002Cys | |
| XM_006724580.2:c.2293C>T | XP_006724643.1:p.Arg765Cys | |
| XM_006724581.2:c.3004C>T | XP_006724644.1:p.Arg1002Cys | |
| XM_006724582.2:c.3004C>T | XP_006724645.1:p.Arg1002Cys | |
| XM_006724583.2:c.3004C>T | XP_006724646.1:p.Arg1002Cys | |
| XM_006724584.2:c.3004C>T | XP_006724647.1:p.Arg1002Cys | |
| XM_011530772.1:c.2230C>T | XP_011529074.1:p.Arg744Cys | |
| XM_011530773.1:c.2197C>T | XP_011529075.1:p.Arg733Cys | |
| XM_011530774.1:c.3004C>T | XP_011529076.1:p.Arg1002Cys | |
| XM_011530775.1:c.3004C>T | XP_011529077.1:p.Arg1002Cys | |
| XM_011530776.1:c.3004C>T | XP_011529078.1:p.Arg1002Cys | |
| XM_011530777.1:c.3004C>T | XP_011529079.1:p.Arg1002Cys | |
| XR_938365.1:n.3231C>T | ||
| XM_006724579.3:c.3004C>T | XP_006724642.1:p.Arg1002Cys | |
| XM_006724580.3:c.2293C>T | XP_006724643.1:p.Arg765Cys | |
| XM_006724581.4:c.3004C>T | XP_006724644.1:p.Arg1002Cys | |
| XM_006724582.4:c.3004C>T | XP_006724645.1:p.Arg1002Cys | |
| XM_006724583.4:c.3004C>T | XP_006724646.1:p.Arg1002Cys | |
| XM_006724584.3:c.3004C>T | XP_006724647.1:p.Arg1002Cys | |
| XM_011530773.2:c.2197C>T | XP_011529075.1:p.Arg733Cys | |
| XM_011530774.3:c.3004C>T | XP_011529076.1:p.Arg1002Cys | |
| XM_011530776.2:c.3004C>T | XP_011529078.1:p.Arg1002Cys | |
| XM_011530777.2:c.3004C>T | XP_011529079.1:p.Arg1002Cys | |
| XM_017029359.2:c.2878C>T | XP_016884848.1:p.Arg960Cys | |
| XM_017029360.1:c.2410C>T | XP_016884849.1:p.Arg804Cys | |
| XR_938365.2:n.3225C>T | ||
| NM_001111125.3:c.2908C>T MANE Select | NP_001104595.1:p.Arg970Cys | |
| NM_015075.2:c.2293C>T | NP_055890.1:p.Arg765Cys |