Linked Data
dbSNP Id:
rs1384752219
gnomAD v3:
X-154379821-C-G
gnomAD v4:
X-154379821-C-G
MyVariant Identifiers:
chrX:g.154379821C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379821C>G , CM000685.2:g.154379821C>G | GRCh38 |
| NC_000023.10:g.153608181C>G , CM000685.1:g.153608181C>G | GRCh37 |
| NC_000023.9:g.153261375C>G | NCBI36 |
| NG_008677.1:g.10386C>G , LRG_745:g.10386C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.187+27C>G | ENSP00000507245.1:n.187+27C>G | |
| ENST00000682478.1:n.163+27C>G | ||
| ENST00000683576.1:n.163+27C>G | ||
| ENST00000683627.1:c.187+27C>G | ENSP00000507533.1:n.187+27C>G | |
| ENST00000684082.1:c.187+27C>G | ENSP00000508266.1:n.187+27C>G | |
| ENST00000684633.1:n.159+27C>G | ||
| ENST00000684678.1:c.183+27C>G | ENSP00000507059.1:n.183+27C>G | |
| ENST00000369842.9:c.187+27C>G MANE Select | ENSP00000358857.4:n.187+27C>G | |
| ENST00000369835.3:c.83-121C>G | ENSP00000358850.3:n.83-121C>G | |
| ENST00000369842.8:c.187+27C>G | ENSP00000358857.4:n.187+27C>G | |
| ENST00000428228.5:c.*92+27C>G | ENSP00000401081.1:n.*92+27C>G | |
| ENST00000468294.5:n.147+27C>G | ||
| ENST00000485261.1:n.164-121C>G | ||
| ENST00000486738.5:n.331+27C>G | ||
| ENST00000492448.1:n.170+27C>G | ||
| ENST00000494443.5:n.244+27C>G | ||
| NM_000117.2:c.187+27C>G , LRG_745t1:c.187+27C>G | NP_000108.1:n.187+27C>G | |
| XM_024452349.1:c.-22+27C>G | XP_024308117.1:n.-22+27C>G | |
| NM_000117.3:c.187+27C>G MANE Select | NP_000108.1:n.187+27C>G |