Linked Data
ClinVar Variation Id:
1752606
dbSNP Id:
rs1557176057
gnomAD v2:
X-153581213-G-A
gnomAD v3:
X-154352845-G-A
gnomAD v4:
X-154352845-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352845G>A , CM000685.2:g.154352845G>A | GRCh38 |
| NC_000023.10:g.153581213G>A , CM000685.1:g.153581213G>A | GRCh37 |
| NC_000023.9:g.153234407G>A | NCBI36 |
| NG_011506.1:g.26794C>T | |
| NG_011506.2:g.26794C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6282C>T | ENSP00000353467.4:p.Cys2094= | |
| ENST00000369850.10:c.6306C>T MANE Select | ENSP00000358866.3:p.Cys2102= | |
| ENST00000369856.8:c.6225C>T | ENSP00000358872.4:p.Cys2075= | |
| ENST00000422373.6:c.3161-170C>T | ENSP00000416926.2:n.3161-170C>T | |
| ENST00000610817.5:c.6363C>T | ENSP00000480593.2:n.6363C>T | |
| ENST00000673639.2:c.280-4155C>T | ||
| ENST00000676696.1:c.6585C>T | ENSP00000503392.1:n.6585C>T | |
| ENST00000678304.1:n.1485C>T | ||
| ENST00000344736.8:c.6186C>T | ENSP00000358863.3:p.Cys2062= | |
| ENST00000360319.8:c.6282C>T | ENSP00000353467.4:p.Cys2094= | |
| ENST00000369850.7:c.6306C>T | ENSP00000358866.3:p.Cys2102= | |
| ENST00000369856.7:c.6225C>T | ENSP00000358872.4:p.Cys2075= | |
| ENST00000415241.1:c.508C>T | ||
| ENST00000420627.5:c.6262C>T | ENSP00000408921.1:n.6262C>T | |
| ENST00000422373.5:c.6282C>T | ENSP00000416926.1:p.Cys2094= | |
| ENST00000444578.1:c.249C>T | ENSP00000397824.1:p.Cys83= | |
| ENST00000466325.1:n.521C>T | ||
| ENST00000490936.5:n.2295C>T | ||
| ENST00000498411.1:n.39C>T | ||
| ENST00000610817.4:c.5844+548C>T | ENSP00000480593.1:n.5844+548C>T | |
| NM_001110556.1:c.6306C>T | NP_001104026.1:p.Cys2102= | |
| NM_001456.3:c.6282C>T | NP_001447.2:p.Cys2094= | |
| XM_011531127.1:c.6210C>T | XP_011529429.1:p.Cys2070= | |
| XM_011531128.1:c.6186C>T | XP_011529430.1:p.Cys2062= | |
| XM_011531129.1:c.6132C>T | XP_011529431.1:p.Cys2044= | |
| XM_011531130.1:c.6108C>T | XP_011529432.1:p.Cys2036= | |
| XM_011531131.1:c.6105C>T | XP_011529433.1:p.Cys2035= | |
| NM_001110556.2:c.6306C>T MANE Select | NP_001104026.1:p.Cys2102= | |
| NM_001456.4:c.6282C>T | NP_001447.2:p.Cys2094= |