Linked Data
ClinVar Variation Id:
1560736
ClinVar RCV Id:
RCV002198000
dbSNP Id:
rs2147747411
gnomAD v4:
X-71108649-G-A
MyVariant Identifiers:
chrX:g.70328499G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71108649G>A , CM000685.2:g.71108649G>A | GRCh38 |
| NC_000023.10:g.70328499G>A , CM000685.1:g.70328499G>A | GRCh37 |
| NC_000023.9:g.70245224G>A | NCBI36 |
| NG_009088.1:g.7905C>T , LRG_150:g.7905C>T | |
| NG_021141.1:g.3140C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482750.6:c.758-303C>T | ENSP00000421262.2:n.758-303C>T | |
| ENST00000696903.1:n.855C>T | ||
| ENST00000374202.7:c.804C>T MANE Select | ENSP00000363318.3:p.Gly268= | |
| ENST00000642473.1:n.1168C>T | ||
| ENST00000644022.1:n.1070C>T | ||
| ENST00000644708.1:n.1164-303C>T | ||
| ENST00000644911.1:n.1210C>T | ||
| ENST00000645266.1:c.804C>T | ENSP00000493734.1:p.Gly268= | |
| ENST00000645518.1:c.804C>T | ENSP00000493986.1:p.Gly268= | |
| ENST00000646106.1:c.804C>T | ENSP00000496437.1:p.Gly268= | |
| ENST00000646505.1:c.804C>T | ENSP00000496673.1:p.Gly268= | |
| ENST00000647492.1:c.804C>T | ENSP00000495340.1:p.Gly268= | |
| ENST00000276110.6:n.1397C>T | ||
| ENST00000374188.7:c.42-303C>T | ENSP00000363303.3:n.42-303C>T | |
| ENST00000374202.6:c.804C>T | ENSP00000363318.2:p.Gly268= | |
| ENST00000456850.6:c.234C>T | ENSP00000388967.2:p.Gly78= | |
| ENST00000482750.5:c.171-303C>T | ||
| ENST00000512747.3:n.731C>T | ||
| NM_000206.2:c.804C>T , LRG_150t1:c.804C>T | NP_000197.1:p.Gly268= | |
| NM_000206.3:c.804C>T MANE Select | NP_000197.1:p.Gly268= |