Linked Data
ClinVar Variation Id:
726627
ClinVar RCV Id:
RCV002065688
dbSNP Id:
rs1601935224
gnomAD v3:
X-43693377-C-G
gnomAD v4:
X-43693377-C-G
MyVariant Identifiers:
chrX:g.43552624C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.43693377C>G , CM000685.2:g.43693377C>G | GRCh38 |
| NC_000023.10:g.43552624C>G , CM000685.1:g.43552624C>G | GRCh37 |
| NC_000023.9:g.43437568C>G | NCBI36 |
| NG_008957.2:g.42217C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000497485.2:n.387C>G | ||
| ENST00000542639.6:c.-145C>G | ENSP00000440846.1:n.-145C>G | |
| ENST00000686683.1:c.-356C>G | ENSP00000509063.1:n.-356C>G | |
| ENST00000686980.1:n.387C>G | ||
| ENST00000688006.1:c.-145C>G | ENSP00000510311.1:n.-145C>G | |
| ENST00000689087.1:c.-145C>G | ENSP00000508997.1:n.-145C>G | |
| ENST00000693128.1:c.255C>G | ENSP00000508493.1:p.Gly85= | |
| ENST00000338702.4:c.255C>G MANE Select | ENSP00000340684.3:p.Gly85= | |
| ENST00000338702.3:c.255C>G | ENSP00000340684.3:p.Gly85= | |
| ENST00000497485.1:n.403C>G | ||
| ENST00000542639.5:c.-145C>G | ENSP00000440846.1:n.-145C>G | |
| NM_000240.3:c.255C>G | NP_000231.1:p.Gly85= | |
| NM_001270458.1:c.-145C>G | NP_001257387.1:n.-145C>G | |
| NM_000240.4:c.255C>G MANE Select | NP_000231.1:p.Gly85= | |
| NM_001270458.2:c.-145C>G | NP_001257387.1:n.-145C>G |