Linked Data
ClinVar Variation Id:
2705445
ClinVar RCV Id:
RCV003510631
dbSNP Id:
rs782754738
ExAC:
X:53279889 A / C
gnomAD v2:
X-53279889-A-C
gnomAD v4:
X-53250707-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53250707A>C , CM000685.2:g.53250707A>C | GRCh38 |
| NC_000023.10:g.53279889A>C , CM000685.1:g.53279889A>C | GRCh37 |
| NC_000023.9:g.53296614A>C | NCBI36 |
| NG_021296.1:g.75634T>G | |
| NG_021296.2:g.75644T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.2028T>G | ENSP00000516672.1:p.Ala676= | |
| ENST00000640694.1:c.1869T>G | ENSP00000492403.1:p.Ala623= | |
| ENST00000642864.1:c.1869T>G MANE Select | ENSP00000495726.1:p.Ala623= | |
| ENST00000674510.1:c.1869T>G | ENSP00000502054.1:p.Ala623= | |
| ENST00000675719.1:c.1839T>G | ENSP00000501927.1:p.Ala613= | |
| ENST00000375365.2:c.1254T>G | ENSP00000364514.2:p.Ala418= | |
| ENST00000396435.7:c.1869T>G | ENSP00000379712.3:p.Ala623= | |
| NM_001111125.2:c.1869T>G | NP_001104595.1:p.Ala623= | |
| NM_015075.1:c.1254T>G | NP_055890.1:p.Ala418= | |
| XM_006724579.2:c.1965T>G | XP_006724642.1:p.Ala655= | |
| XM_006724580.2:c.1254T>G | XP_006724643.1:p.Ala418= | |
| XM_006724581.2:c.1965T>G | XP_006724644.1:p.Ala655= | |
| XM_006724582.2:c.1965T>G | XP_006724645.1:p.Ala655= | |
| XM_006724583.2:c.1965T>G | XP_006724646.1:p.Ala655= | |
| XM_006724584.2:c.1965T>G | XP_006724647.1:p.Ala655= | |
| XM_011530772.1:c.1191T>G | XP_011529074.1:p.Ala397= | |
| XM_011530773.1:c.1158T>G | XP_011529075.1:p.Ala386= | |
| XM_011530774.1:c.1965T>G | XP_011529076.1:p.Ala655= | |
| XM_011530775.1:c.1965T>G | XP_011529077.1:p.Ala655= | |
| XM_011530776.1:c.1965T>G | XP_011529078.1:p.Ala655= | |
| XM_011530777.1:c.1965T>G | XP_011529079.1:p.Ala655= | |
| XR_938365.1:n.2192T>G | ||
| XM_006724579.3:c.1965T>G | XP_006724642.1:p.Ala655= | |
| XM_006724580.3:c.1254T>G | XP_006724643.1:p.Ala418= | |
| XM_006724581.4:c.1965T>G | XP_006724644.1:p.Ala655= | |
| XM_006724582.4:c.1965T>G | XP_006724645.1:p.Ala655= | |
| XM_006724583.4:c.1965T>G | XP_006724646.1:p.Ala655= | |
| XM_006724584.3:c.1965T>G | XP_006724647.1:p.Ala655= | |
| XM_011530773.2:c.1158T>G | XP_011529075.1:p.Ala386= | |
| XM_011530774.3:c.1965T>G | XP_011529076.1:p.Ala655= | |
| XM_011530776.2:c.1965T>G | XP_011529078.1:p.Ala655= | |
| XM_011530777.2:c.1965T>G | XP_011529079.1:p.Ala655= | |
| XM_017029359.2:c.1839T>G | XP_016884848.1:p.Ala613= | |
| XM_017029360.1:c.1371T>G | XP_016884849.1:p.Ala457= | |
| XR_938365.2:n.2186T>G | ||
| NM_001111125.3:c.1869T>G MANE Select | NP_001104595.1:p.Ala623= | |
| NM_015075.2:c.1254T>G | NP_055890.1:p.Ala418= |