Linked Data
ClinVar Variation Id:
1900159
ClinVar RCV Id:
RCV002570988
gnomAD v4:
X-25013695-C-G
MyVariant Identifiers:
chrX:g.25031812C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013695C>G , CM000685.2:g.25013695C>G | GRCh38 |
| NC_000023.10:g.25031812C>G , CM000685.1:g.25031812C>G | GRCh37 |
| NC_000023.9:g.24941733C>G | NCBI36 |
| NG_008281.1:g.7254G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.300G>C MANE Select | ENSP00000368332.4:p.Ala100= | |
| ENST00000379044.4:c.300G>C | ENSP00000368332.4:p.Ala100= | |
| NM_139058.2:c.300G>C | NP_620689.1:p.Ala100= | |
| NM_139058.3:c.300G>C MANE Select | NP_620689.1:p.Ala100= |