Linked Data
dbSNP Id:
rs538451811
gnomAD v2:
11-6340494-C-G
gnomAD v3:
11-6319264-C-G
gnomAD v4:
11-6319264-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319264C>G , CM000673.2:g.6319264C>G | GRCh38 |
| NC_000011.9:g.6340494C>G , CM000673.1:g.6340494C>G | GRCh37 |
| NC_000011.8:g.6297070C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.685G>C MANE Select | ENSP00000307292.3:p.Glu229Gln | |
| ENST00000303927.3:c.685G>C | ENSP00000307292.3:p.Glu229Gln | |
| ENST00000524852.1:n.471G>C | ||
| ENST00000530979.1:c.781G>C | ENSP00000432047.1:p.Glu261Gln | |
| ENST00000532354.1:n.707G>C | ||
| NM_145040.2:c.685G>C | NP_659477.2:p.Glu229Gln | |
| XR_930997.1:n.720+1044C>G | ||
| XR_242848.4:n.124C>G | ||
| NM_145040.3:c.685G>C MANE Select | NP_659477.2:p.Glu229Gln |