Linked Data
ClinVar Variation Id:
2457166
ClinVar RCV Id:
RCV004254309
dbSNP Id:
rs371017691
ExAC:
11:6340405 C / G
gnomAD v2:
11-6340405-C-G
gnomAD v3:
11-6319175-C-G
gnomAD v4:
11-6319175-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319175C>G , CM000673.2:g.6319175C>G | GRCh38 |
| NC_000011.9:g.6340405C>G , CM000673.1:g.6340405C>G | GRCh37 |
| NC_000011.8:g.6296981C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.774G>C MANE Select | ENSP00000307292.3:p.Glu258Asp | |
| ENST00000303927.3:c.774G>C | ENSP00000307292.3:p.Glu258Asp | |
| ENST00000524852.1:n.560G>C | ||
| ENST00000530979.1:c.870G>C | ENSP00000432047.1:p.Glu290Asp | |
| ENST00000532354.1:n.796G>C | ||
| NM_145040.2:c.774G>C | NP_659477.2:p.Glu258Asp | |
| XR_930997.1:n.720+955C>G | ||
| XR_242848.4:n.35C>G | ||
| NM_145040.3:c.774G>C MANE Select | NP_659477.2:p.Glu258Asp |