Linked Data
ClinVar Variation Id:
1134400
ClinVar RCV Id:
RCV001469310
dbSNP Id:
rs2147318758
MyVariant Identifiers:
chrX:g.25022973C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004856C>T , CM000685.2:g.25004856C>T | GRCh38 |
| NC_000023.10:g.25022973C>T , CM000685.1:g.25022973C>T | GRCh37 |
| NC_000023.9:g.24932894C>T | NCBI36 |
| NG_008281.1:g.16093G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1503G>A MANE Select | ENSP00000368332.4:p.Leu501= | |
| ENST00000379044.4:c.1503G>A | ENSP00000368332.4:p.Leu501= | |
| NM_139058.2:c.1503G>A | NP_620689.1:p.Leu501= | |
| NM_139058.3:c.1503G>A MANE Select | NP_620689.1:p.Leu501= |