Linked Data
ClinVar Variation Id:
1779723
dbSNP Id:
rs730881047
gnomAD v2:
2-39249801-C-G
gnomAD v3:
2-39022660-C-G
gnomAD v4:
2-39022660-C-G
COSMIC:
COSM5973792
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022660C>G , CM000664.2:g.39022660C>G | GRCh38 |
| NC_000002.11:g.39249801C>G , CM000664.1:g.39249801C>G | GRCh37 |
| NC_000002.10:g.39103305C>G | NCBI36 |
| NG_007530.1:g.102804G>C , LRG_754:g.102804G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1648G>C | ||
| ENST00000685279.1:c.535G>C | ENSP00000509424.1:p.Glu179Gln | |
| ENST00000688043.1:n.1989G>C | ||
| ENST00000689668.1:n.1775G>C | ||
| ENST00000690876.1:c.1657G>C | ENSP00000508955.1:p.Glu553Gln | |
| ENST00000691229.1:c.1657G>C | ENSP00000510437.1:p.Glu553Gln | |
| ENST00000692089.1:c.1657G>C | ENSP00000508626.1:p.Glu553Gln | |
| ENST00000692620.1:c.535G>C | ENSP00000509311.1:p.Glu179Gln | |
| ENST00000402219.8:c.1768G>C MANE Select | ENSP00000384675.2:p.Glu590Gln | |
| ENST00000395038.6:c.1768G>C | ENSP00000378479.2:p.Glu590Gln | |
| ENST00000402219.6:c.1768G>C | ENSP00000384675.2:p.Glu590Gln | |
| ENST00000426016.5:c.1768G>C | ENSP00000387784.1:p.Glu590Gln | |
| NM_005633.3:c.1768G>C , LRG_754t1:c.1768G>C | NP_005624.2:p.Glu590Gln | |
| XM_005264515.3:c.1768G>C | XP_005264572.1:p.Glu590Gln | |
| XM_011533060.1:c.1861G>C | XP_011531362.1:p.Glu621Gln | |
| XM_011533061.1:c.1861G>C | XP_011531363.1:p.Glu621Gln | |
| XM_011533062.1:c.1747G>C | XP_011531364.1:p.Glu583Gln | |
| XM_011533063.1:c.1744G>C | XP_011531365.1:p.Glu582Gln | |
| XM_011533064.1:c.1597G>C | XP_011531366.1:p.Glu533Gln | |
| XM_011533065.1:c.1861G>C | XP_011531367.1:p.Glu621Gln | |
| XM_011533066.1:c.703G>C | XP_011531368.1:p.Glu235Gln | |
| XM_005264515.4:c.1768G>C | XP_005264572.1:p.Glu590Gln | |
| XM_011533062.2:c.1747G>C | XP_011531364.1:p.Glu583Gln | |
| XM_011533064.2:c.1597G>C | XP_011531366.1:p.Glu533Gln | |
| NM_001382394.1:c.1747G>C | NP_001369323.1:p.Glu583Gln | |
| NM_001382395.1:c.1768G>C | NP_001369324.1:p.Glu590Gln | |
| NM_005633.4:c.1768G>C MANE Select | NP_005624.2:p.Glu590Gln |