Linked Data
ClinVar Variation Id:
2943991
ClinVar RCV Id:
RCV003803549
gnomAD v4:
X-154352866-C-T
MyVariant Identifiers:
chrX:g.153581234C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352866C>T , CM000685.2:g.154352866C>T | GRCh38 |
| NC_000023.10:g.153581234C>T , CM000685.1:g.153581234C>T | GRCh37 |
| NC_000023.9:g.153234428C>T | NCBI36 |
| NG_011506.1:g.26773G>A | |
| NG_011506.2:g.26773G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6261G>A | ENSP00000353467.4:p.Glu2087= | |
| ENST00000369850.10:c.6285G>A MANE Select | ENSP00000358866.3:p.Glu2095= | |
| ENST00000369856.8:c.6204G>A | ENSP00000358872.4:p.Glu2068= | |
| ENST00000422373.6:c.3161-191G>A | ENSP00000416926.2:n.3161-191G>A | |
| ENST00000610817.5:c.6342G>A | ENSP00000480593.2:n.6342G>A | |
| ENST00000673639.2:c.280-4176G>A | ||
| ENST00000676696.1:c.6564G>A | ENSP00000503392.1:n.6564G>A | |
| ENST00000678304.1:n.1464G>A | ||
| ENST00000344736.8:c.6165G>A | ENSP00000358863.3:p.Glu2055= | |
| ENST00000360319.8:c.6261G>A | ENSP00000353467.4:p.Glu2087= | |
| ENST00000369850.7:c.6285G>A | ENSP00000358866.3:p.Glu2095= | |
| ENST00000369856.7:c.6204G>A | ENSP00000358872.4:p.Glu2068= | |
| ENST00000415241.1:c.487G>A | ||
| ENST00000420627.5:c.6241G>A | ENSP00000408921.1:n.6241G>A | |
| ENST00000422373.5:c.6261G>A | ENSP00000416926.1:p.Glu2087= | |
| ENST00000444578.1:c.228G>A | ENSP00000397824.1:p.Glu76= | |
| ENST00000466325.1:n.500G>A | ||
| ENST00000490936.5:n.2274G>A | ||
| ENST00000498411.1:n.18G>A | ||
| ENST00000610817.4:c.5844+527G>A | ENSP00000480593.1:n.5844+527G>A | |
| NM_001110556.1:c.6285G>A | NP_001104026.1:p.Glu2095= | |
| NM_001456.3:c.6261G>A | NP_001447.2:p.Glu2087= | |
| XM_011531127.1:c.6189G>A | XP_011529429.1:p.Glu2063= | |
| XM_011531128.1:c.6165G>A | XP_011529430.1:p.Glu2055= | |
| XM_011531129.1:c.6111G>A | XP_011529431.1:p.Glu2037= | |
| XM_011531130.1:c.6087G>A | XP_011529432.1:p.Glu2029= | |
| XM_011531131.1:c.6084G>A | XP_011529433.1:p.Glu2028= | |
| NM_001110556.2:c.6285G>A MANE Select | NP_001104026.1:p.Glu2095= | |
| NM_001456.4:c.6261G>A | NP_001447.2:p.Glu2087= |