Linked Data
ClinVar Variation Id:
1609085
ClinVar RCV Id:
RCV002150038
dbSNP Id:
rs2128838202
MyVariant Identifiers:
chr8:g.19811830A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954319A>G , CM000670.2:g.19954319A>G | GRCh38 |
| NC_000008.10:g.19811830A>G , CM000670.1:g.19811830A>G | GRCh37 |
| NC_000008.9:g.19856110A>G | NCBI36 |
| NG_008855.1:g.20249A>G | |
| NG_008855.2:g.57603A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.741A>G MANE Select | ENSP00000497642.1:p.Glu247= | |
| ENST00000311322.8:c.741A>G | ENSP00000309757.6:p.Glu247= | |
| NM_000237.2:c.741A>G | NP_000228.1:p.Glu247= | |
| NM_000237.3:c.741A>G MANE Select | NP_000228.1:p.Glu247= |