Linked Data
dbSNP Id:
rs1262229787
gnomAD v4:
X-135985316-C-G
MyVariant Identifiers:
chrX:g.135985316C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.135985316C>G , CM000685.2:g.135985316C>G | GRCh38 |
| NC_000023.10:g.135067475C>G , CM000685.1:g.135067475C>G | GRCh37 |
| NC_000023.9:g.134895141C>G | NCBI36 |
| NG_017160.1:g.4890C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370701.6:c.-218C>G | ENSP00000359735.1:n.-218C>G | |
| ENST00000636092.1:c.-56-287C>G | ENSP00000490406.1:n.-56-287C>G | |
| ENST00000636347.1:c.-35-308C>G | ENSP00000490648.1:n.-35-308C>G | |
| ENST00000637195.1:c.-35-308C>G | ENSP00000490330.1:n.-35-308C>G | |
| ENST00000637234.1:c.-56-287C>G | ENSP00000490527.1:n.-56-287C>G | |
| ENST00000637581.1:c.-56-287C>G | ENSP00000490731.1:n.-56-287C>G | |
| XM_006724726.3:c.-213C>G | XP_006724789.1:n.-213C>G | |
| XM_017029223.2:c.-56-287C>G | XP_016884712.1:n.-56-287C>G | |
| XM_017029224.1:c.-56-287C>G | XP_016884713.1:n.-56-287C>G | |
| NM_001400909.1:c.-35-308C>G | NP_001387838.1:n.-35-308C>G | |
| NM_001400910.1:c.-56-287C>G | NP_001387839.1:n.-56-287C>G | |
| NM_001400911.1:c.-56-287C>G | NP_001387840.1:n.-56-287C>G |