Linked Data
ClinVar Variation Id:
435197
dbSNP Id:
rs781972193
ExAC:
X:153580313 C / T
gnomAD v2:
X-153580313-C-T
gnomAD v4:
X-154351945-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154351945C>T , CM000685.2:g.154351945C>T | GRCh38 |
| NC_000023.10:g.153580313C>T , CM000685.1:g.153580313C>T | GRCh37 |
| NC_000023.9:g.153233507C>T | NCBI36 |
| NG_011506.1:g.27694G>A | |
| NG_011506.2:g.27694G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6822G>A | ENSP00000353467.4:p.Glu2274= | |
| ENST00000369850.10:c.6846G>A MANE Select | ENSP00000358866.3:p.Glu2282= | |
| ENST00000369856.8:c.6765G>A | ENSP00000358872.4:p.Glu2255= | |
| ENST00000422373.6:c.3627G>A | ENSP00000416926.2:p.Glu1209= | |
| ENST00000610817.5:c.6903G>A | ENSP00000480593.2:n.6903G>A | |
| ENST00000673639.2:c.280-3255G>A | ||
| ENST00000676696.1:c.7125G>A | ENSP00000503392.1:n.7125G>A | |
| ENST00000678304.1:n.2025G>A | ||
| ENST00000344736.8:c.6726G>A | ENSP00000358863.3:p.Glu2242= | |
| ENST00000360319.8:c.6822G>A | ENSP00000353467.4:p.Glu2274= | |
| ENST00000369850.7:c.6846G>A | ENSP00000358866.3:p.Glu2282= | |
| ENST00000369856.7:c.6765G>A | ENSP00000358872.4:p.Glu2255= | |
| ENST00000420627.5:c.6802G>A | ENSP00000408921.1:n.6802G>A | |
| ENST00000422373.5:c.6822G>A | ENSP00000416926.1:p.Glu2274= | |
| ENST00000444578.1:c.666G>A | ENSP00000397824.1:p.Glu222= | |
| ENST00000474358.5:n.479G>A | ||
| ENST00000490936.5:n.2835G>A | ||
| ENST00000498411.1:n.67+872G>A | ||
| ENST00000610817.4:c.5850G>A | ENSP00000480593.1:p.Glu1950= | |
| NM_001110556.1:c.6846G>A | NP_001104026.1:p.Glu2282= | |
| NM_001456.3:c.6822G>A | NP_001447.2:p.Glu2274= | |
| XM_011531127.1:c.6750G>A | XP_011529429.1:p.Glu2250= | |
| XM_011531128.1:c.6726G>A | XP_011529430.1:p.Glu2242= | |
| XM_011531129.1:c.6672G>A | XP_011529431.1:p.Glu2224= | |
| XM_011531130.1:c.6648G>A | XP_011529432.1:p.Glu2216= | |
| XM_011531131.1:c.6645G>A | XP_011529433.1:p.Glu2215= | |
| NM_001110556.2:c.6846G>A MANE Select | NP_001104026.1:p.Glu2282= | |
| NM_001456.4:c.6822G>A | NP_001447.2:p.Glu2274= |