Linked Data
ClinVar Variation Id:
445427
dbSNP Id:
rs746346104
ExAC:
X:70389753 C / T
gnomAD v2:
X-70389753-C-T
gnomAD v3:
X-71169903-C-T
gnomAD v4:
X-71169903-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71169903C>T , CM000685.2:g.71169903C>T | GRCh38 |
| NC_000023.10:g.70389753C>T , CM000685.1:g.70389753C>T | GRCh37 |
| NC_000023.9:g.70306478C>T | NCBI36 |
| NG_015874.1:g.30073C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476589.2:n.2532C>T | ||
| ENST00000536169.6:c.2233C>T | ENSP00000445298.1:p.Arg745Cys | |
| ENST00000685718.1:c.*1700C>T | ENSP00000510514.1:n.*1700C>T | |
| ENST00000685950.1:n.4028C>T | ||
| ENST00000687220.1:c.2002C>T | ENSP00000509531.1:p.Arg668Cys | |
| ENST00000687470.1:c.2194+159C>T | ENSP00000508881.1:n.2194+159C>T | |
| ENST00000687568.1:c.*528C>T | ENSP00000509635.1:n.*528C>T | |
| ENST00000688566.1:c.2002C>T | ENSP00000509202.1:p.Arg668Cys | |
| ENST00000688950.1:n.3336C>T | ||
| ENST00000689857.1:c.2083C>T | ENSP00000510719.1:p.Arg695Cys | |
| ENST00000689968.1:c.2014C>T | ENSP00000510150.1:p.Arg672Cys | |
| ENST00000690133.1:c.1942C>T | ENSP00000508912.1:p.Arg648Cys | |
| ENST00000690293.1:c.*1893C>T | ENSP00000509154.1:n.*1893C>T | |
| ENST00000692338.1:c.1942C>T | ENSP00000508700.1:p.Arg648Cys | |
| ENST00000692468.1:n.1857C>T | ||
| ENST00000358741.4:c.2353C>T MANE Select | ENSP00000351591.4:p.Arg785Cys | |
| ENST00000358741.3:c.2353C>T | ENSP00000351591.3:p.Arg785Cys | |
| ENST00000374051.7:c.2293C>T | ENSP00000363163.3:p.Arg765Cys | |
| ENST00000476589.1:n.1857C>T | ||
| ENST00000536169.5:c.2233C>T | ENSP00000445298.1:p.Arg745Cys | |
| ENST00000612180.4:c.*885C>T | ENSP00000479877.1:n.*885C>T | |
| NM_001166660.1:c.2233C>T | NP_001160132.1:p.Arg745Cys | |
| NM_018977.3:c.2293C>T | NP_061850.2:p.Arg765Cys | |
| NM_181303.1:c.2353C>T | NP_851820.1:p.Arg785Cys | |
| XM_005262279.2:c.1704-1751C>T | XP_005262336.1:n.1704-1751C>T | |
| XM_006724662.2:c.2206C>T | XP_006724725.2:p.Arg736Cys | |
| XM_006724663.2:c.2002C>T | XP_006724726.1:p.Arg668Cys | |
| XM_011530974.1:c.2002C>T | XP_011529276.1:p.Arg668Cys | |
| XM_011530975.1:c.1942C>T | XP_011529277.1:p.Arg648Cys | |
| NM_001321276.1:c.1942C>T | NP_001308205.1:p.Arg648Cys | |
| XM_006724662.4:c.2206C>T | XP_006724725.2:p.Arg736Cys | |
| XM_006724663.4:c.2002C>T | XP_006724726.1:p.Arg668Cys | |
| XM_011530974.3:c.2002C>T | XP_011529276.1:p.Arg668Cys | |
| XM_017029597.2:c.1704-1751C>T | XP_016885086.1:n.1704-1751C>T | |
| NM_001321276.2:c.1942C>T | NP_001308205.1:p.Arg648Cys | |
| NM_018977.4:c.2293C>T | NP_061850.2:p.Arg765Cys | |
| NM_181303.2:c.2353C>T MANE Select | NP_851820.1:p.Arg785Cys | |
| NM_001166660.2:c.2233C>T | NP_001160132.1:p.Arg745Cys |