Linked Data
ClinVar Variation Id:
1042328
ClinVar RCV Id:
RCV001346262
dbSNP Id:
rs1556861319
gnomAD v2:
X-53272536-C-T
gnomAD v4:
X-53243354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53243354C>T , CM000685.2:g.53243354C>T | GRCh38 |
| NC_000023.10:g.53272536C>T , CM000685.1:g.53272536C>T | GRCh37 |
| NC_000023.9:g.53289261C>T | NCBI36 |
| NG_021296.1:g.82987G>A | |
| NG_021296.2:g.82997G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.3026G>A | ENSP00000516672.1:p.Arg1009His | |
| ENST00000638521.1:c.819G>A | ||
| ENST00000638869.1:c.328G>A | ||
| ENST00000639642.1:c.157G>A | ||
| ENST00000640694.1:c.2867G>A | ENSP00000492403.1:p.Arg956His | |
| ENST00000642864.1:c.2867G>A MANE Select | ENSP00000495726.1:p.Arg956His | |
| ENST00000674510.1:c.2867G>A | ENSP00000502054.1:p.Arg956His | |
| ENST00000674761.1:n.618G>A | ||
| ENST00000675719.1:c.2837G>A | ENSP00000501927.1:p.Arg946His | |
| ENST00000375365.2:c.2252G>A | ENSP00000364514.2:p.Arg751His | |
| ENST00000396435.7:c.2867G>A | ENSP00000379712.3:p.Arg956His | |
| NM_001111125.2:c.2867G>A | NP_001104595.1:p.Arg956His | |
| NM_015075.1:c.2252G>A | NP_055890.1:p.Arg751His | |
| XM_006724579.2:c.2963G>A | XP_006724642.1:p.Arg988His | |
| XM_006724580.2:c.2252G>A | XP_006724643.1:p.Arg751His | |
| XM_006724581.2:c.2963G>A | XP_006724644.1:p.Arg988His | |
| XM_006724582.2:c.2963G>A | XP_006724645.1:p.Arg988His | |
| XM_006724583.2:c.2963G>A | XP_006724646.1:p.Arg988His | |
| XM_006724584.2:c.2963G>A | XP_006724647.1:p.Arg988His | |
| XM_011530772.1:c.2189G>A | XP_011529074.1:p.Arg730His | |
| XM_011530773.1:c.2156G>A | XP_011529075.1:p.Arg719His | |
| XM_011530774.1:c.2963G>A | XP_011529076.1:p.Arg988His | |
| XM_011530775.1:c.2963G>A | XP_011529077.1:p.Arg988His | |
| XM_011530776.1:c.2963G>A | XP_011529078.1:p.Arg988His | |
| XM_011530777.1:c.2963G>A | XP_011529079.1:p.Arg988His | |
| XR_938365.1:n.3190G>A | ||
| XM_006724579.3:c.2963G>A | XP_006724642.1:p.Arg988His | |
| XM_006724580.3:c.2252G>A | XP_006724643.1:p.Arg751His | |
| XM_006724581.4:c.2963G>A | XP_006724644.1:p.Arg988His | |
| XM_006724582.4:c.2963G>A | XP_006724645.1:p.Arg988His | |
| XM_006724583.4:c.2963G>A | XP_006724646.1:p.Arg988His | |
| XM_006724584.3:c.2963G>A | XP_006724647.1:p.Arg988His | |
| XM_011530773.2:c.2156G>A | XP_011529075.1:p.Arg719His | |
| XM_011530774.3:c.2963G>A | XP_011529076.1:p.Arg988His | |
| XM_011530776.2:c.2963G>A | XP_011529078.1:p.Arg988His | |
| XM_011530777.2:c.2963G>A | XP_011529079.1:p.Arg988His | |
| XM_017029359.2:c.2837G>A | XP_016884848.1:p.Arg946His | |
| XM_017029360.1:c.2369G>A | XP_016884849.1:p.Arg790His | |
| XR_938365.2:n.3184G>A | ||
| NM_001111125.3:c.2867G>A MANE Select | NP_001104595.1:p.Arg956His | |
| NM_015075.2:c.2252G>A | NP_055890.1:p.Arg751His |