Linked Data
dbSNP Id:
rs1085307962
gnomAD v4:
X-67711404-C-A
MyVariant Identifiers:
chrX:g.66931246C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67711404C>A , CM000685.2:g.67711404C>A | GRCh38 |
| NC_000023.10:g.66931246C>A , CM000685.1:g.66931246C>A | GRCh37 |
| NC_000023.9:g.66847971C>A | NCBI36 |
| NG_009014.2:g.172373C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396043.4:c.*236C>A | ENSP00000379358.4:n.*236C>A | |
| ENST00000374690.9:c.1888C>A MANE Select | ENSP00000363822.3:p.Arg630= | |
| ENST00000396043.3:c.515C>A | ENSP00000379358.3:n.515C>A | |
| ENST00000396044.8:c.1888C>A | ENSP00000379359.3:p.Arg630= | |
| ENST00000612452.5:c.1888C>A | ENSP00000484033.2:p.Arg630= | |
| ENST00000374690.7:c.1888C>A | ENSP00000363822.3:p.Arg630= | |
| ENST00000396043.2:c.292C>A | ENSP00000379358.2:p.Arg98= | |
| ENST00000396044.7:c.1888C>A | ENSP00000379359.3:p.Arg630= | |
| ENST00000612452.4:c.1318C>A | ENSP00000484033.1:p.Arg440= | |
| NM_000044.3:c.1888C>A | NP_000035.2:p.Arg630= | |
| NM_001011645.2:c.292C>A | NP_001011645.1:p.Arg98= | |
| NM_000044.4:c.1888C>A | NP_000035.2:p.Arg630= | |
| NM_001011645.3:c.292C>A | NP_001011645.1:p.Arg98= | |
| NM_000044.6:c.1888C>A MANE Select | NP_000035.2:p.Arg630= |