Linked Data
ClinVar Variation Id:
1542825
ClinVar RCV Id:
RCV002179810
dbSNP Id:
rs1201858558
gnomAD v2:
12-76739725-T-C
gnomAD v4:
12-76345945-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76345945T>C , CM000674.2:g.76345945T>C | GRCh38 |
| NC_000012.11:g.76739725T>C , CM000674.1:g.76739725T>C | GRCh37 |
| NC_000012.10:g.75263856T>C | NCBI36 |
| NG_016357.1:g.7498A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.2040A>G MANE Select | ENSP00000497413.1:p.Ser680= | |
| ENST00000393262.3:c.2040A>G | ENSP00000376946.3:p.Ser680= | |
| NM_024685.3:c.2040A>G | NP_078961.3:p.Ser680= | |
| NM_024685.4:c.2040A>G MANE Select | NP_078961.3:p.Ser680= |