Linked Data
ClinVar Variation Id:
2937547
ClinVar RCV Id:
RCV003794177
gnomAD v4:
X-25013692-T-G
MyVariant Identifiers:
chrX:g.25031809T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013692T>G , CM000685.2:g.25013692T>G | GRCh38 |
| NC_000023.10:g.25031809T>G , CM000685.1:g.25031809T>G | GRCh37 |
| NC_000023.9:g.24941730T>G | NCBI36 |
| NG_008281.1:g.7257A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.303A>C MANE Select | ENSP00000368332.4:p.Ala101= | |
| ENST00000379044.4:c.303A>C | ENSP00000368332.4:p.Ala101= | |
| NM_139058.2:c.303A>C | NP_620689.1:p.Ala101= | |
| NM_139058.3:c.303A>C MANE Select | NP_620689.1:p.Ala101= |