Linked Data
dbSNP Id:
rs1555977348
gnomAD v2:
X-100608338-C-A
gnomAD v4:
X-101353350-C-A
MyVariant Identifiers:
chrX:g.100608338C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101353350C>A , CM000685.2:g.101353350C>A | GRCh38 |
| NC_000023.10:g.100608338C>A , CM000685.1:g.100608338C>A | GRCh37 |
| NC_000023.9:g.100494994C>A | NCBI36 |
| NG_009616.1:g.37875G>T , LRG_128:g.37875G>T | |
| NG_011734.1:g.620G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.3269G>T | ||
| ENST00000488970.2:n.3908G>T | ||
| ENST00000695614.1:c.1752G>T | ENSP00000512053.1:p.Gly584= | |
| ENST00000695615.1:c.1752G>T | ENSP00000512054.1:p.Gly584= | |
| ENST00000695616.1:c.*1597G>T | ENSP00000512055.1:n.*1597G>T | |
| ENST00000695617.1:c.1749G>T | ENSP00000512056.1:p.Gly583= | |
| ENST00000695618.1:c.*1501G>T | ENSP00000512058.1:n.*1501G>T | |
| ENST00000695619.1:c.*1462G>T | ENSP00000512059.1:n.*1462G>T | |
| ENST00000695620.1:c.*1678G>T | ENSP00000512060.1:n.*1678G>T | |
| ENST00000695621.1:c.*177G>T | ENSP00000512061.1:n.*177G>T | |
| ENST00000695622.1:c.1689G>T | ENSP00000512062.1:p.Gly563= | |
| ENST00000695623.1:c.1746G>T | ENSP00000512063.1:p.Gly582= | |
| ENST00000695624.1:n.1057G>T | ||
| ENST00000695625.1:c.1752G>T | ENSP00000512064.1:p.Gly584= | |
| ENST00000695626.1:c.507G>T | ENSP00000512065.1:n.507G>T | |
| ENST00000695627.1:c.700G>T | ENSP00000512066.1:n.700G>T | |
| ENST00000695628.1:c.311G>T | ENSP00000512067.1:n.311G>T | |
| ENST00000695629.1:c.192G>T | ENSP00000512068.1:p.Gly64= | |
| ENST00000695630.1:c.479G>T | ||
| ENST00000695631.1:c.115-102G>T | ||
| ENST00000703407.1:c.1224G>T | ENSP00000512057.1:p.Gly408= | |
| ENST00000308731.8:c.1752G>T MANE Select | ENSP00000308176.8:p.Gly584= | |
| ENST00000308731.7:c.1752G>T | ENSP00000308176.7:p.Gly584= | |
| ENST00000372880.5:c.1224G>T | ENSP00000361971.1:p.Gly408= | |
| ENST00000470069.1:n.117G>T | ||
| ENST00000488970.1:n.354G>T | ||
| ENST00000618050.4:c.1751G>T | ENSP00000479125.1:n.1751G>T | |
| ENST00000621635.4:c.1854G>T | ENSP00000483570.1:p.Gly618= | |
| NM_000061.2:c.1752G>T , LRG_128t1:c.1752G>T | NP_000052.1:p.Gly584= | |
| NM_001287344.1:c.1854G>T | NP_001274273.1:p.Gly618= | |
| NM_001287345.1:c.1224G>T | NP_001274274.1:p.Gly408= | |
| NM_000061.3:c.1752G>T MANE Select | NP_000052.1:p.Gly584= | |
| NM_001287344.2:c.1854G>T | NP_001274273.1:p.Gly618= | |
| NM_001287345.2:c.1224G>T | NP_001274274.1:p.Gly408= |