Linked Data
ClinVar Variation Id:
733259
ClinVar RCV Id:
RCV001399281
dbSNP Id:
rs542999741
ExAC:
1:979496 C / T
gnomAD v2:
1-979496-C-T
gnomAD v3:
1-1044116-C-T
gnomAD v4:
1-1044116-C-T
COSMIC:
COSM5353552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1044116C>T , CM000663.2:g.1044116C>T | GRCh38 |
| NC_000001.10:g.979496C>T , CM000663.1:g.979496C>T | GRCh37 |
| NC_000001.9:g.969359C>T | NCBI36 |
| NG_016346.1:g.28994C>T , LRG_198:g.28994C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.2007C>T MANE Select | ENSP00000368678.2:p.Cys669= | |
| ENST00000651234.1:c.1692C>T | ENSP00000499046.1:p.Cys564= | |
| ENST00000652369.1:c.1692C>T | ENSP00000498543.1:p.Cys564= | |
| ENST00000379370.6:c.2007C>T | ENSP00000368678.2:p.Cys669= | |
| ENST00000620552.4:c.1593C>T | ENSP00000484607.1:p.Cys531= | |
| NM_001305275.1:c.2007C>T | NP_001292204.1:p.Cys669= | |
| NM_198576.3:c.2007C>T | NP_940978.2:p.Cys669= | |
| XM_005244749.2:c.2007C>T | XP_005244806.1:p.Cys669= | |
| XM_006710635.2:c.2007C>T | XP_006710698.1:p.Cys669= | |
| XM_011541429.1:c.2007C>T | XP_011539731.1:p.Cys669= | |
| XM_011541430.1:c.1134C>T | XP_011539732.1:p.Cys378= | |
| XM_011541431.1:c.273C>T | XP_011539733.1:p.Cys91= | |
| XR_946650.1:n.2074C>T | ||
| NM_001364727.1:c.1692C>T | NP_001351656.1:p.Cys564= | |
| XM_005244749.3:c.2007C>T | XP_005244806.1:p.Cys669= | |
| XM_011541429.2:c.2007C>T | XP_011539731.1:p.Cys669= | |
| XR_946650.2:n.2078C>T | ||
| NM_001305275.2:c.2007C>T | NP_001292204.1:p.Cys669= | |
| NM_198576.4:c.2007C>T MANE Select | NP_940978.2:p.Cys669= | |
| NM_001364727.2:c.1692C>T | NP_001351656.1:p.Cys564= |