Linked Data
ClinVar Variation Id:
962267
dbSNP Id:
rs2092255386
gnomAD v4:
X-71108277-C-T
MyVariant Identifiers:
chrX:g.70328127C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71108277C>T , CM000685.2:g.71108277C>T | GRCh38 |
| NC_000023.10:g.70328127C>T , CM000685.1:g.70328127C>T | GRCh37 |
| NC_000023.9:g.70244852C>T | NCBI36 |
| NG_009088.1:g.8277G>A , LRG_150:g.8277G>A | |
| NG_021141.1:g.3512G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482750.6:c.*44G>A | ENSP00000421262.2:n.*44G>A | |
| ENST00000696903.1:n.1227G>A | ||
| ENST00000374202.7:c.924G>A MANE Select | ENSP00000363318.3:p.Ser308= | |
| ENST00000642473.1:n.1288G>A | ||
| ENST00000644022.1:n.1190G>A | ||
| ENST00000644708.1:n.1233G>A | ||
| ENST00000644911.1:n.1330G>A | ||
| ENST00000645266.1:c.924G>A | ENSP00000493734.1:p.Ser308= | |
| ENST00000645518.1:c.924G>A | ENSP00000493986.1:p.Ser308= | |
| ENST00000646106.1:c.924G>A | ENSP00000496437.1:p.Ser308= | |
| ENST00000646505.1:c.924G>A | ENSP00000496673.1:p.Ser308= | |
| ENST00000647492.1:c.924G>A | ENSP00000495340.1:p.Ser308= | |
| ENST00000276110.6:n.1517G>A | ||
| ENST00000374188.7:c.111G>A | ENSP00000363303.3:p.Ser37= | |
| ENST00000374202.6:c.924G>A | ENSP00000363318.2:p.Ser308= | |
| ENST00000456850.6:c.354G>A | ENSP00000388967.2:p.Ser118= | |
| ENST00000482750.5:c.240G>A | ||
| ENST00000512747.3:n.1103G>A | ||
| NM_000206.2:c.924G>A , LRG_150t1:c.924G>A | NP_000197.1:p.Ser308= | |
| NM_000206.3:c.924G>A MANE Select | NP_000197.1:p.Ser308= |