Linked Data
ClinVar Variation Id:
1656819
ClinVar RCV Id:
RCV002164182
dbSNP Id:
rs2136090796
MyVariant Identifiers:
chr12:g.76740889T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76347109T>C , CM000674.2:g.76347109T>C | GRCh38 |
| NC_000012.11:g.76740889T>C , CM000674.1:g.76740889T>C | GRCh37 |
| NC_000012.10:g.75265020T>C | NCBI36 |
| NG_016357.1:g.6334A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.876A>G MANE Select | ENSP00000497413.1:p.Glu292= | |
| ENST00000393262.3:c.876A>G | ENSP00000376946.3:p.Glu292= | |
| NM_024685.3:c.876A>G | NP_078961.3:p.Glu292= | |
| NM_024685.4:c.876A>G MANE Select | NP_078961.3:p.Glu292= |