Linked Data
ClinVar Variation Id:
2743790
ClinVar RCV Id:
RCV003509279
dbSNP Id:
rs781869986
gnomAD v4:
X-53241858-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53241858C>A , CM000685.2:g.53241858C>A | GRCh38 |
| NC_000023.10:g.53271040C>A , CM000685.1:g.53271040C>A | GRCh37 |
| NC_000023.9:g.53287765C>A | NCBI36 |
| NG_021296.1:g.84483G>T | |
| NG_021296.2:g.84493G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.3100G>T | ENSP00000516672.1:p.Val1034Leu | |
| ENST00000638521.1:c.893G>T | ||
| ENST00000638869.1:c.402G>T | ||
| ENST00000639642.1:c.231G>T | ||
| ENST00000640005.1:c.4G>T | ENSP00000491293.1:p.Val2Leu | |
| ENST00000640694.1:c.2941G>T | ENSP00000492403.1:p.Val981Leu | |
| ENST00000642864.1:c.2941G>T MANE Select | ENSP00000495726.1:p.Val981Leu | |
| ENST00000674510.1:c.2941G>T | ENSP00000502054.1:p.Val981Leu | |
| ENST00000674761.1:n.1248G>T | ||
| ENST00000675719.1:c.2911G>T | ENSP00000501927.1:p.Val971Leu | |
| ENST00000375365.2:c.2326G>T | ENSP00000364514.2:p.Val776Leu | |
| ENST00000396435.7:c.2941G>T | ENSP00000379712.3:p.Val981Leu | |
| NM_001111125.2:c.2941G>T | NP_001104595.1:p.Val981Leu | |
| NM_015075.1:c.2326G>T | NP_055890.1:p.Val776Leu | |
| XM_006724579.2:c.3037G>T | XP_006724642.1:p.Val1013Leu | |
| XM_006724580.2:c.2326G>T | XP_006724643.1:p.Val776Leu | |
| XM_006724581.2:c.3037G>T | XP_006724644.1:p.Val1013Leu | |
| XM_006724582.2:c.3037G>T | XP_006724645.1:p.Val1013Leu | |
| XM_006724583.2:c.3037G>T | XP_006724646.1:p.Val1013Leu | |
| XM_006724584.2:c.3037G>T | XP_006724647.1:p.Val1013Leu | |
| XM_011530772.1:c.2263G>T | XP_011529074.1:p.Val755Leu | |
| XM_011530773.1:c.2230G>T | XP_011529075.1:p.Val744Leu | |
| XM_011530774.1:c.3037G>T | XP_011529076.1:p.Val1013Leu | |
| XM_011530775.1:c.3037G>T | XP_011529077.1:p.Val1013Leu | |
| XM_011530776.1:c.3037G>T | XP_011529078.1:p.Val1013Leu | |
| XM_011530777.1:c.3037G>T | XP_011529079.1:p.Val1013Leu | |
| XR_938365.1:n.3264G>T | ||
| XM_006724579.3:c.3037G>T | XP_006724642.1:p.Val1013Leu | |
| XM_006724580.3:c.2326G>T | XP_006724643.1:p.Val776Leu | |
| XM_006724581.4:c.3037G>T | XP_006724644.1:p.Val1013Leu | |
| XM_006724582.4:c.3037G>T | XP_006724645.1:p.Val1013Leu | |
| XM_006724583.4:c.3037G>T | XP_006724646.1:p.Val1013Leu | |
| XM_006724584.3:c.3037G>T | XP_006724647.1:p.Val1013Leu | |
| XM_011530773.2:c.2230G>T | XP_011529075.1:p.Val744Leu | |
| XM_011530774.3:c.3037G>T | XP_011529076.1:p.Val1013Leu | |
| XM_011530776.2:c.3037G>T | XP_011529078.1:p.Val1013Leu | |
| XM_011530777.2:c.3037G>T | XP_011529079.1:p.Val1013Leu | |
| XM_017029359.2:c.2911G>T | XP_016884848.1:p.Val971Leu | |
| XM_017029360.1:c.2443G>T | XP_016884849.1:p.Val815Leu | |
| XR_938365.2:n.3258G>T | ||
| NM_001111125.3:c.2941G>T MANE Select | NP_001104595.1:p.Val981Leu | |
| NM_015075.2:c.2326G>T | NP_055890.1:p.Val776Leu |