Linked Data
ClinVar Variation Id:
1670284
ClinVar RCV Id:
RCV002203575
dbSNP Id:
rs2146581326
MyVariant Identifiers:
chrX:g.53407610C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53380689C>T , CM000685.2:g.53380689C>T | GRCh38 |
| NC_000023.10:g.53407610C>T , CM000685.1:g.53407610C>T | GRCh37 |
| NC_000023.9:g.53424335C>T | NCBI36 |
| NG_006988.2:g.46982G>A , LRG_773:g.46982G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.3549G>A MANE Select | ENSP00000323421.3:p.Gln1183= | |
| ENST00000674590.1:c.2781G>A | ENSP00000502626.1:p.Gln927= | |
| ENST00000675504.1:c.3483G>A | ENSP00000502524.1:p.Gln1161= | |
| ENST00000322213.8:c.3549G>A | ENSP00000323421.3:p.Gln1183= | |
| ENST00000375340.10:c.3483G>A | ENSP00000364489.7:p.Gln1161= | |
| ENST00000470241.2:c.769G>A | ||
| NM_001281463.1:c.3483G>A , LRG_773t1:c.3483G>A | NP_001268392.1:p.Gln1161= | |
| NM_006306.3:c.3549G>A , LRG_773t2:c.3549G>A | NP_006297.2:p.Gln1183= | |
| NM_006306.4:c.3549G>A MANE Select | NP_006297.2:p.Gln1183= |