Linked Data
ClinVar Variation Id:
765098
ClinVar RCV Id:
RCV001418464
dbSNP Id:
rs1366600162
MyVariant Identifiers:
chr1:g.156834538T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156864746T>A , CM000663.2:g.156864746T>A | GRCh38 |
| NC_000001.10:g.156834538T>A , CM000663.1:g.156834538T>A | GRCh37 |
| NC_000001.9:g.155101162T>A | NCBI36 |
| NG_007493.1:g.53997T>A , LRG_261:g.53997T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674537.2:c.144T>A | ENSP00000502725.1:p.Gly48= | |
| ENST00000392302.7:c.144T>A | ENSP00000376120.3:p.Gly48= | |
| ENST00000497019.7:c.144T>A | ENSP00000436804.2:p.Gly48= | |
| ENST00000524377.7:c.306T>A MANE Select | ENSP00000431418.1:p.Gly102= | |
| ENST00000674537.1:c.144T>A | ENSP00000502725.1:p.Gly48= | |
| ENST00000675461.1:c.306T>A | ENSP00000501668.1:p.Gly102= | |
| ENST00000358660.3:c.306T>A | ENSP00000351486.3:p.Gly102= | |
| ENST00000368196.7:c.306T>A | ENSP00000357179.3:p.Gly102= | |
| ENST00000392302.6:c.216T>A | ENSP00000376120.2:p.Gly72= | |
| ENST00000489021.6:n.313-8887T>A | ||
| ENST00000497019.6:c.216T>A | ENSP00000436804.1:p.Gly72= | |
| ENST00000524377.5:c.306T>A | ENSP00000431418.1:p.Gly102= | |
| ENST00000530298.5:n.364T>A | ||
| ENST00000533630.1:n.328T>A | ||
| NM_001007792.1:c.216T>A , LRG_261t1:c.216T>A | NP_001007793.1:p.Gly72= | |
| NM_001012331.1:c.306T>A , LRG_261t2:c.306T>A | NP_001012331.1:p.Gly102= | |
| NM_002529.3:c.306T>A , LRG_261t3:c.306T>A | NP_002520.2:p.Gly102= | |
| NM_001012331.2:c.306T>A | NP_001012331.1:p.Gly102= | |
| NM_002529.4:c.306T>A MANE Select | NP_002520.2:p.Gly102= |