Linked Data
ClinVar Variation Id:
2066815
ClinVar RCV Id:
RCV002943571
dbSNP Id:
rs1556863232
gnomAD v2:
X-53279923-C-T
gnomAD v4:
X-53250741-C-T
COSMIC:
COSM5081536
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53250741C>T , CM000685.2:g.53250741C>T | GRCh38 |
| NC_000023.10:g.53279923C>T , CM000685.1:g.53279923C>T | GRCh37 |
| NC_000023.9:g.53296648C>T | NCBI36 |
| NG_021296.1:g.75600G>A | |
| NG_021296.2:g.75610G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.1994G>A | ENSP00000516672.1:p.Arg665His | |
| ENST00000640694.1:c.1835G>A | ENSP00000492403.1:p.Arg612His | |
| ENST00000642864.1:c.1835G>A MANE Select | ENSP00000495726.1:p.Arg612His | |
| ENST00000674510.1:c.1835G>A | ENSP00000502054.1:p.Arg612His | |
| ENST00000675719.1:c.1805G>A | ENSP00000501927.1:p.Arg602His | |
| ENST00000375365.2:c.1220G>A | ENSP00000364514.2:p.Arg407His | |
| ENST00000396435.7:c.1835G>A | ENSP00000379712.3:p.Arg612His | |
| NM_001111125.2:c.1835G>A | NP_001104595.1:p.Arg612His | |
| NM_015075.1:c.1220G>A | NP_055890.1:p.Arg407His | |
| XM_006724579.2:c.1931G>A | XP_006724642.1:p.Arg644His | |
| XM_006724580.2:c.1220G>A | XP_006724643.1:p.Arg407His | |
| XM_006724581.2:c.1931G>A | XP_006724644.1:p.Arg644His | |
| XM_006724582.2:c.1931G>A | XP_006724645.1:p.Arg644His | |
| XM_006724583.2:c.1931G>A | XP_006724646.1:p.Arg644His | |
| XM_006724584.2:c.1931G>A | XP_006724647.1:p.Arg644His | |
| XM_011530772.1:c.1157G>A | XP_011529074.1:p.Arg386His | |
| XM_011530773.1:c.1124G>A | XP_011529075.1:p.Arg375His | |
| XM_011530774.1:c.1931G>A | XP_011529076.1:p.Arg644His | |
| XM_011530775.1:c.1931G>A | XP_011529077.1:p.Arg644His | |
| XM_011530776.1:c.1931G>A | XP_011529078.1:p.Arg644His | |
| XM_011530777.1:c.1931G>A | XP_011529079.1:p.Arg644His | |
| XR_938365.1:n.2158G>A | ||
| XM_006724579.3:c.1931G>A | XP_006724642.1:p.Arg644His | |
| XM_006724580.3:c.1220G>A | XP_006724643.1:p.Arg407His | |
| XM_006724581.4:c.1931G>A | XP_006724644.1:p.Arg644His | |
| XM_006724582.4:c.1931G>A | XP_006724645.1:p.Arg644His | |
| XM_006724583.4:c.1931G>A | XP_006724646.1:p.Arg644His | |
| XM_006724584.3:c.1931G>A | XP_006724647.1:p.Arg644His | |
| XM_011530773.2:c.1124G>A | XP_011529075.1:p.Arg375His | |
| XM_011530774.3:c.1931G>A | XP_011529076.1:p.Arg644His | |
| XM_011530776.2:c.1931G>A | XP_011529078.1:p.Arg644His | |
| XM_011530777.2:c.1931G>A | XP_011529079.1:p.Arg644His | |
| XM_017029359.2:c.1805G>A | XP_016884848.1:p.Arg602His | |
| XM_017029360.1:c.1337G>A | XP_016884849.1:p.Arg446His | |
| XR_938365.2:n.2152G>A | ||
| NM_001111125.3:c.1835G>A MANE Select | NP_001104595.1:p.Arg612His | |
| NM_015075.2:c.1220G>A | NP_055890.1:p.Arg407His |