Linked Data
ClinVar Variation Id:
994529
dbSNP Id:
rs865842167
gnomAD v3:
X-108695336-C-T
gnomAD v4:
X-108695336-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108695336C>T , CM000685.2:g.108695336C>T | GRCh38 |
| NC_000023.10:g.107938566C>T , CM000685.1:g.107938566C>T | GRCh37 |
| NC_000023.9:g.107825222C>T | NCBI36 |
| NG_011977.1:g.260413C>T | |
| NG_011977.2:g.260413C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4891C>T MANE Select | ENSP00000331902.7:p.Arg1631Cys | |
| ENST00000361603.7:c.4873C>T | ENSP00000354505.2:p.Arg1625Cys | |
| ENST00000510690.2:n.1385C>T | ||
| ENST00000644079.1:n.1722C>T | ||
| ENST00000328300.10:c.4891C>T | ENSP00000331902.6:p.Arg1631Cys | |
| ENST00000361603.6:c.4873C>T | ENSP00000354505.2:p.Arg1625Cys | |
| ENST00000504541.1:c.219+415C>T | ENSP00000424845.1:n.219+415C>T | |
| ENST00000515658.1:c.325-961C>T | ||
| NM_000495.4:c.4873C>T | NP_000486.1:p.Arg1625Cys | |
| NM_033380.2:c.4891C>T | NP_203699.1:p.Arg1631Cys | |
| XM_005262070.2:c.4882C>T | XP_005262127.1:p.Arg1628Cys | |
| XM_006724616.2:c.4891C>T | XP_006724679.1:p.Arg1631Cys | |
| XM_011530849.1:c.4567C>T | XP_011529151.1:p.Arg1523Cys | |
| XM_011530851.1:c.2464C>T | XP_011529153.1:p.Arg822Cys | |
| XM_011530849.2:c.4906C>T | XP_011529151.2:p.Arg1636Cys | |
| XM_017029259.2:c.4897C>T | XP_016884748.1:p.Arg1633Cys | |
| XM_017029260.1:c.4888C>T | XP_016884749.1:p.Arg1630Cys | |
| XM_017029263.2:c.3226C>T | XP_016884752.1:p.Arg1076Cys | |
| NM_000495.5:c.4873C>T | NP_000486.1:p.Arg1625Cys | |
| NM_033380.3:c.4891C>T MANE Select | NP_203699.1:p.Arg1631Cys |