Linked Data
ClinVar Variation Id:
2843194
ClinVar RCV Id:
RCV003623100
dbSNP Id:
rs782205815
ExAC:
X:53277292 A / C
gnomAD v2:
X-53277292-A-C
gnomAD v3:
X-53248110-A-C
gnomAD v4:
X-53248110-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53248110A>C , CM000685.2:g.53248110A>C | GRCh38 |
| NC_000023.10:g.53277292A>C , CM000685.1:g.53277292A>C | GRCh37 |
| NC_000023.9:g.53294017A>C | NCBI36 |
| NG_021296.1:g.78231T>G | |
| NG_021296.2:g.78241T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.2741+4T>G | ENSP00000516672.1:n.2741+4T>G | |
| ENST00000638521.1:c.534+4T>G | ||
| ENST00000638869.1:c.43+4T>G | ||
| ENST00000640694.1:c.2582+4T>G | ENSP00000492403.1:n.2582+4T>G | |
| ENST00000642864.1:c.2582+4T>G MANE Select | ENSP00000495726.1:n.2582+4T>G | |
| ENST00000674510.1:c.2582+4T>G | ENSP00000502054.1:n.2582+4T>G | |
| ENST00000674761.1:n.333+4T>G | ||
| ENST00000675719.1:c.2552+4T>G | ENSP00000501927.1:n.2552+4T>G | |
| ENST00000375365.2:c.1967+4T>G | ENSP00000364514.2:n.1967+4T>G | |
| ENST00000396435.7:c.2582+4T>G | ENSP00000379712.3:n.2582+4T>G | |
| NM_001111125.2:c.2582+4T>G | NP_001104595.1:n.2582+4T>G | |
| NM_015075.1:c.1967+4T>G | NP_055890.1:n.1967+4T>G | |
| XM_006724579.2:c.2678+4T>G | XP_006724642.1:n.2678+4T>G | |
| XM_006724580.2:c.1967+4T>G | XP_006724643.1:n.1967+4T>G | |
| XM_006724581.2:c.2678+4T>G | XP_006724644.1:n.2678+4T>G | |
| XM_006724582.2:c.2678+4T>G | XP_006724645.1:n.2678+4T>G | |
| XM_006724583.2:c.2678+4T>G | XP_006724646.1:n.2678+4T>G | |
| XM_006724584.2:c.2678+4T>G | XP_006724647.1:n.2678+4T>G | |
| XM_011530772.1:c.1904+4T>G | XP_011529074.1:n.1904+4T>G | |
| XM_011530773.1:c.1871+4T>G | XP_011529075.1:n.1871+4T>G | |
| XM_011530774.1:c.2678+4T>G | XP_011529076.1:n.2678+4T>G | |
| XM_011530775.1:c.2678+4T>G | XP_011529077.1:n.2678+4T>G | |
| XM_011530776.1:c.2678+4T>G | XP_011529078.1:n.2678+4T>G | |
| XM_011530777.1:c.2678+4T>G | XP_011529079.1:n.2678+4T>G | |
| XR_938365.1:n.2905+4T>G | ||
| XM_006724579.3:c.2678+4T>G | XP_006724642.1:n.2678+4T>G | |
| XM_006724580.3:c.1967+4T>G | XP_006724643.1:n.1967+4T>G | |
| XM_006724581.4:c.2678+4T>G | XP_006724644.1:n.2678+4T>G | |
| XM_006724582.4:c.2678+4T>G | XP_006724645.1:n.2678+4T>G | |
| XM_006724583.4:c.2678+4T>G | XP_006724646.1:n.2678+4T>G | |
| XM_006724584.3:c.2678+4T>G | XP_006724647.1:n.2678+4T>G | |
| XM_011530773.2:c.1871+4T>G | XP_011529075.1:n.1871+4T>G | |
| XM_011530774.3:c.2678+4T>G | XP_011529076.1:n.2678+4T>G | |
| XM_011530776.2:c.2678+4T>G | XP_011529078.1:n.2678+4T>G | |
| XM_011530777.2:c.2678+4T>G | XP_011529079.1:n.2678+4T>G | |
| XM_017029359.2:c.2552+4T>G | XP_016884848.1:n.2552+4T>G | |
| XM_017029360.1:c.2084+4T>G | XP_016884849.1:n.2084+4T>G | |
| XR_938365.2:n.2899+4T>G | ||
| NM_001111125.3:c.2582+4T>G MANE Select | NP_001104595.1:n.2582+4T>G | |
| NM_015075.2:c.1967+4T>G | NP_055890.1:n.1967+4T>G |