Linked Data
ClinVar Variation Id:
242725
ClinVar RCV Id:
RCV000782218
dbSNP Id:
rs144282156
ExAC:
X:107929326 C / T
gnomAD v2:
X-107929326-C-T
gnomAD v3:
X-108686096-C-T
gnomAD v4:
X-108686096-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108686096C>T , CM000685.2:g.108686096C>T | GRCh38 |
| NC_000023.10:g.107929326C>T , CM000685.1:g.107929326C>T | GRCh37 |
| NC_000023.9:g.107815982C>T | NCBI36 |
| NG_011977.1:g.251173C>T | |
| NG_011977.2:g.251173C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.4282C>T MANE Select | ENSP00000331902.7:p.Arg1428Cys | |
| ENST00000361603.7:c.4264C>T | ENSP00000354505.2:p.Arg1422Cys | |
| ENST00000510690.2:n.776C>T | ||
| ENST00000328300.10:c.4282C>T | ENSP00000331902.6:p.Arg1428Cys | |
| ENST00000361603.6:c.4264C>T | ENSP00000354505.2:p.Arg1422Cys | |
| ENST00000489230.1:n.685C>T | ||
| ENST00000515658.1:c.78C>T | ||
| NM_000495.4:c.4264C>T | NP_000486.1:p.Arg1422Cys | |
| NM_033380.2:c.4282C>T | NP_203699.1:p.Arg1428Cys | |
| XM_005262070.2:c.4273C>T | XP_005262127.1:p.Arg1425Cys | |
| XM_006724616.2:c.4282C>T | XP_006724679.1:p.Arg1428Cys | |
| XM_011530849.1:c.3958C>T | XP_011529151.1:p.Arg1320Cys | |
| XM_011530851.1:c.1855C>T | XP_011529153.1:p.Arg619Cys | |
| XM_011530849.2:c.4297C>T | XP_011529151.2:p.Arg1433Cys | |
| XM_017029259.2:c.4288C>T | XP_016884748.1:p.Arg1430Cys | |
| XM_017029260.1:c.4279C>T | XP_016884749.1:p.Arg1427Cys | |
| XM_017029263.2:c.2617C>T | XP_016884752.1:p.Arg873Cys | |
| NM_000495.5:c.4264C>T | NP_000486.1:p.Arg1422Cys | |
| NM_033380.3:c.4282C>T MANE Select | NP_203699.1:p.Arg1428Cys |