Linked Data
ClinVar Variation Id:
2011164
ClinVar RCV Id:
RCV002829297
dbSNP Id:
rs2048682530
gnomAD v4:
X-25007281-G-C
MyVariant Identifiers:
chrX:g.25025398G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007281G>C , CM000685.2:g.25007281G>C | GRCh38 |
| NC_000023.10:g.25025398G>C , CM000685.1:g.25025398G>C | GRCh37 |
| NC_000023.9:g.24935319G>C | NCBI36 |
| NG_008281.1:g.13668C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1278C>G MANE Select | ENSP00000368332.4:p.Leu426= | |
| ENST00000379044.4:c.1278C>G | ENSP00000368332.4:p.Leu426= | |
| NM_139058.2:c.1278C>G | NP_620689.1:p.Leu426= | |
| NM_139058.3:c.1278C>G MANE Select | NP_620689.1:p.Leu426= |