Linked Data
ClinVar Variation Id:
894761
ClinVar RCV Id:
RCV001136356
dbSNP Id:
rs747551776
ExAC:
2:157186374 G / C
gnomAD v2:
2-157186374-G-C
gnomAD v3:
2-156329862-G-C
gnomAD v4:
2-156329862-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156329862G>C , CM000664.2:g.156329862G>C | GRCh38 |
| NC_000002.11:g.157186374G>C , CM000664.1:g.157186374G>C | GRCh37 |
| NC_000002.10:g.156894620G>C | NCBI36 |
| NG_011821.1:g.7914C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000421709.2:c.136C>G | ENSP00000388120.2:p.Gln46Glu | |
| ENST00000700228.1:c.196C>G | ENSP00000514865.1:p.Gln66Glu | |
| ENST00000700231.1:c.325C>G | ENSP00000514868.1:p.Gln109Glu | |
| ENST00000339562.9:c.325C>G MANE Select | ENSP00000344479.4:p.Gln109Glu | |
| ENST00000675870.1:c.136C>G | ENSP00000502739.1:p.Gln46Glu | |
| ENST00000339562.8:c.325C>G | ENSP00000344479.4:p.Gln109Glu | |
| ENST00000406048.2:c.208+52C>G | ||
| ENST00000409108.6:c.325C>G | ENSP00000386993.2:p.Gln109Glu | |
| ENST00000409572.5:c.325C>G | ENSP00000386747.1:p.Gln109Glu | |
| ENST00000417764.5:c.136C>G | ENSP00000415632.1:p.Gln46Glu | |
| ENST00000417972.5:c.136C>G | ENSP00000394671.1:p.Gln46Glu | |
| ENST00000421709.1:c.136C>G | ENSP00000388120.1:p.Gln46Glu | |
| ENST00000424077.1:c.325C>G | ENSP00000406808.1:p.Gln109Glu | |
| ENST00000426264.5:c.136C>G | ENSP00000389986.1:p.Gln46Glu | |
| ENST00000429376.5:c.136C>G | ENSP00000410952.1:p.Gln46Glu | |
| NM_006186.3:c.325C>G | NP_006177.1:p.Gln109Glu | |
| XM_005246621.2:c.358C>G | XP_005246678.1:p.Gln120Glu | |
| XM_005246622.2:c.136C>G | XP_005246679.1:p.Gln46Glu | |
| XM_005246623.1:c.136C>G | XP_005246680.1:p.Gln46Glu | |
| XM_006712553.2:c.358C>G | XP_006712616.1:p.Gln120Glu | |
| XM_011511246.1:c.358C>G | XP_011509548.1:p.Gln120Glu | |
| XR_427087.2:n.2531C>G | ||
| NM_173173.2:c.136C>G | NP_775265.1:p.Gln46Glu | |
| XM_005246621.4:c.358C>G | XP_005246678.1:p.Gln120Glu | |
| XM_006712553.4:c.358C>G | XP_006712616.1:p.Gln120Glu | |
| XM_011511246.2:c.358C>G | XP_011509548.1:p.Gln120Glu | |
| XM_017004219.2:c.325C>G | XP_016859708.1:p.Gln109Glu | |
| XM_017004220.2:c.325C>G | XP_016859709.1:p.Gln109Glu | |
| XR_001738751.2:n.693C>G | ||
| XR_001738752.2:n.515C>G | ||
| XR_427087.4:n.572C>G | ||
| NM_006186.4:c.325C>G MANE Select | NP_006177.1:p.Gln109Glu | |
| NM_173173.3:c.136C>G | NP_775265.1:p.Gln46Glu |