Linked Data
dbSNP Id:
rs1175282825
gnomAD v2:
X-153608020-C-G
gnomAD v4:
X-154379660-C-G
MyVariant Identifiers:
chrX:g.153608020C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379660C>G , CM000685.2:g.154379660C>G | GRCh38 |
| NC_000023.10:g.153608020C>G , CM000685.1:g.153608020C>G | GRCh37 |
| NC_000023.9:g.153261214C>G | NCBI36 |
| NG_008677.1:g.10225C>G , LRG_745:g.10225C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682114.1:c.83-30C>G | ENSP00000507245.1:n.83-30C>G | |
| ENST00000682478.1:n.59-30C>G | ||
| ENST00000683576.1:n.59-30C>G | ||
| ENST00000683627.1:c.83-30C>G | ENSP00000507533.1:n.83-30C>G | |
| ENST00000684082.1:c.83-30C>G | ENSP00000508266.1:n.83-30C>G | |
| ENST00000684633.1:n.55-30C>G | ||
| ENST00000684678.1:c.79-30C>G | ENSP00000507059.1:n.79-30C>G | |
| ENST00000369842.9:c.83-30C>G MANE Select | ENSP00000358857.4:n.83-30C>G | |
| ENST00000369835.3:c.82+94C>G | ENSP00000358850.3:n.82+94C>G | |
| ENST00000369842.8:c.83-30C>G | ENSP00000358857.4:n.83-30C>G | |
| ENST00000428228.5:c.54-30C>G | ENSP00000401081.1:n.54-30C>G | |
| ENST00000468294.5:n.43-30C>G | ||
| ENST00000485261.1:n.163+94C>G | ||
| ENST00000486738.5:n.227-30C>G | ||
| ENST00000492448.1:n.36C>G | ||
| ENST00000494443.5:n.140-30C>G | ||
| NM_000117.2:c.83-30C>G , LRG_745t1:c.83-30C>G | NP_000108.1:n.83-30C>G | |
| XM_024452349.1:c.-126-30C>G | XP_024308117.1:n.-126-30C>G | |
| NM_000117.3:c.83-30C>G MANE Select | NP_000108.1:n.83-30C>G |