Linked Data
ClinVar Variation Id:
2419821
ClinVar RCV Id:
RCV003115706
dbSNP Id:
rs564991779
gnomAD v3:
11-20628036-C-G
gnomAD v4:
11-20628036-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20628036C>G , CM000673.2:g.20628036C>G | GRCh38 |
| NC_000011.9:g.20649582C>G , CM000673.1:g.20649582C>G | GRCh37 |
| NC_000011.8:g.20606158C>G | NCBI36 |
| NG_013086.1:g.33637C>G | |
| NG_013086.2:g.33637C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525748.6:c.1452C>G MANE Select | ENSP00000434364.2:p.Gly484= | |
| ENST00000298923.11:c.*749C>G | ENSP00000298923.7:n.*749C>G | |
| ENST00000525748.5:c.1452C>G | ENSP00000434364.1:p.Gly484= | |
| NM_004211.3:c.1452C>G | NP_004202.2:p.Gly484= | |
| XM_005253225.1:c.750C>G | XP_005253282.1:p.Gly250= | |
| XM_011520473.1:c.1452C>G | XP_011518775.1:p.Gly484= | |
| NM_001318369.1:c.750C>G | NP_001305298.1:p.Gly250= | |
| NM_004211.4:c.1452C>G | NP_004202.3:p.Gly484= | |
| XM_017018544.2:c.576C>G | XP_016874033.1:p.Gly192= | |
| XM_017018545.2:c.411C>G | XP_016874034.1:p.Gly137= | |
| NM_001318369.2:c.750C>G | NP_001305298.1:p.Gly250= | |
| NM_004211.5:c.1452C>G MANE Select | NP_004202.4:p.Gly484= |