Linked Data
ClinVar Variation Id:
1663873
ClinVar RCV Id:
RCV002188730
dbSNP Id:
rs373330966
MyVariant Identifiers:
chr1:g.57347181G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56881508G>A , CM000663.2:g.56881508G>A | GRCh38 |
| NC_000001.10:g.57347181G>A , CM000663.1:g.57347181G>A | GRCh37 |
| NC_000001.9:g.57119769G>A | NCBI36 |
| NG_012049.1:g.31739G>A , LRG_139:g.31739G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695676.1:n.599-1973G>A | ||
| ENST00000695677.1:c.528G>A | ENSP00000512097.1:p.Gln176= | |
| ENST00000695678.1:c.528G>A | ENSP00000512098.1:p.Gln176= | |
| ENST00000695679.1:c.465-1973G>A | ENSP00000512099.1:n.465-1973G>A | |
| ENST00000695680.1:n.634G>A | ||
| ENST00000695681.1:c.528G>A | ENSP00000512100.1:p.Gln176= | |
| ENST00000695682.1:n.622G>A | ||
| ENST00000695683.1:n.559G>A | ||
| ENST00000695685.1:n.479G>A | ||
| ENST00000695686.1:n.134G>A | ||
| ENST00000695723.1:c.528G>A | ENSP00000512121.1:p.Gln176= | |
| ENST00000361249.4:c.528G>A MANE Select | ENSP00000354458.3:p.Gln176= | |
| ENST00000361249.3:c.528G>A | ENSP00000354458.3:p.Gln176= | |
| NM_000562.2:c.528G>A , LRG_139t1:c.528G>A | NP_000553.1:p.Gln176= | |
| XM_011542079.1:c.528G>A | XP_011540381.1:p.Gln176= | |
| XM_011542079.2:c.528G>A | XP_011540381.1:p.Gln176= | |
| XM_017002234.1:c.528G>A | XP_016857723.1:p.Gln176= | |
| NM_000562.3:c.528G>A MANE Select | NP_000553.1:p.Gln176= |