Linked Data
ClinVar Variation Id:
1659387
ClinVar RCV Id:
RCV002178490
dbSNP Id:
rs1569290824
gnomAD v4:
X-101353250-T-G
MyVariant Identifiers:
chrX:g.100608238T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101353250T>G , CM000685.2:g.101353250T>G | GRCh38 |
| NC_000023.10:g.100608238T>G , CM000685.1:g.100608238T>G | GRCh37 |
| NC_000023.9:g.100494894T>G | NCBI36 |
| NG_009616.1:g.37975A>C , LRG_128:g.37975A>C | |
| NG_011734.1:g.720A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.3369A>C | ||
| ENST00000488970.2:n.4008A>C | ||
| ENST00000695614.1:c.1852A>C | ENSP00000512053.1:p.Arg618= | |
| ENST00000695615.1:c.1852A>C | ENSP00000512054.1:p.Arg618= | |
| ENST00000695616.1:c.*1697A>C | ENSP00000512055.1:n.*1697A>C | |
| ENST00000695617.1:c.1849A>C | ENSP00000512056.1:p.Arg617= | |
| ENST00000695618.1:c.*1601A>C | ENSP00000512058.1:n.*1601A>C | |
| ENST00000695619.1:c.*1562A>C | ENSP00000512059.1:n.*1562A>C | |
| ENST00000695620.1:c.*1778A>C | ENSP00000512060.1:n.*1778A>C | |
| ENST00000695621.1:c.*277A>C | ENSP00000512061.1:n.*277A>C | |
| ENST00000695622.1:c.1789A>C | ENSP00000512062.1:p.Arg597= | |
| ENST00000695623.1:c.1846A>C | ENSP00000512063.1:p.Arg616= | |
| ENST00000695624.1:n.1157A>C | ||
| ENST00000695625.1:c.1852A>C | ENSP00000512064.1:p.Arg618= | |
| ENST00000695626.1:c.607A>C | ENSP00000512065.1:n.607A>C | |
| ENST00000695627.1:c.800A>C | ENSP00000512066.1:n.800A>C | |
| ENST00000695628.1:c.411A>C | ENSP00000512067.1:n.411A>C | |
| ENST00000695629.1:c.292A>C | ENSP00000512068.1:p.Arg98= | |
| ENST00000695630.1:c.579A>C | ||
| ENST00000695631.1:c.115-2A>C | ||
| ENST00000703407.1:c.1324A>C | ENSP00000512057.1:p.Arg442= | |
| ENST00000308731.8:c.1852A>C MANE Select | ENSP00000308176.8:p.Arg618= | |
| ENST00000308731.7:c.1852A>C | ENSP00000308176.7:p.Arg618= | |
| ENST00000372880.5:c.1324A>C | ENSP00000361971.1:p.Arg442= | |
| ENST00000470069.1:n.217A>C | ||
| ENST00000618050.4:c.1851A>C | ENSP00000479125.1:n.1851A>C | |
| ENST00000621635.4:c.1954A>C | ENSP00000483570.1:p.Arg652= | |
| NM_000061.2:c.1852A>C , LRG_128t1:c.1852A>C | NP_000052.1:p.Arg618= | |
| NM_001287344.1:c.1954A>C | NP_001274273.1:p.Arg652= | |
| NM_001287345.1:c.1324A>C | NP_001274274.1:p.Arg442= | |
| NM_000061.3:c.1852A>C MANE Select | NP_000052.1:p.Arg618= | |
| NM_001287344.2:c.1954A>C | NP_001274273.1:p.Arg652= | |
| NM_001287345.2:c.1324A>C | NP_001274274.1:p.Arg442= |