Linked Data
ClinVar Variation Id:
1619825
ClinVar RCV Id:
RCV002084535
dbSNP Id:
rs969805899
gnomAD v2:
11-20660007-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20638461T>G , CM000673.2:g.20638461T>G | GRCh38 |
| NC_000011.9:g.20660007T>G , CM000673.1:g.20660007T>G | GRCh37 |
| NC_000011.8:g.20616583T>G | NCBI36 |
| NG_013086.1:g.44062T>G | |
| NG_013086.2:g.44062T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525748.6:c.1872T>G MANE Select | ENSP00000434364.2:p.Gly624= | |
| ENST00000298923.11:c.*1169T>G | ENSP00000298923.7:n.*1169T>G | |
| ENST00000525748.5:c.1872T>G | ENSP00000434364.1:p.Gly624= | |
| ENST00000528440.1:n.403T>G | ||
| NM_004211.3:c.1872T>G | NP_004202.2:p.Gly624= | |
| XM_005253225.1:c.1170T>G | XP_005253282.1:p.Gly390= | |
| XM_011520473.1:c.1872T>G | XP_011518775.1:p.Gly624= | |
| NM_001318369.1:c.1170T>G | NP_001305298.1:p.Gly390= | |
| NM_004211.4:c.1872T>G | NP_004202.3:p.Gly624= | |
| XM_017018544.2:c.996T>G | XP_016874033.1:p.Gly332= | |
| XM_017018545.2:c.831T>G | XP_016874034.1:p.Gly277= | |
| NM_001318369.2:c.1170T>G | NP_001305298.1:p.Gly390= | |
| NM_004211.5:c.1872T>G MANE Select | NP_004202.4:p.Gly624= |