Linked Data
ClinVar Variation Id:
1919748
ClinVar RCV Id:
RCV002594973
dbSNP Id:
rs769365325
ExAC:
1:40558071 T / G
gnomAD v2:
1-40558071-T-G
gnomAD v4:
1-40092399-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092399T>G , CM000663.2:g.40092399T>G | GRCh38 |
| NC_000001.10:g.40558071T>G , CM000663.1:g.40558071T>G | GRCh37 |
| NC_000001.9:g.40330658T>G | NCBI36 |
| NG_009192.1:g.10072A>C , LRG_690:g.10072A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*69A>C | ENSP00000361865.5:n.*69A>C | |
| ENST00000433473.8:c.230A>C | ENSP00000394863.4:p.Glu77Ala | |
| ENST00000439754.6:c.233A>C | ENSP00000403207.2:p.Glu78Ala | |
| ENST00000449045.7:c.125-2887A>C | ENSP00000392293.2:n.125-2887A>C | |
| ENST00000526547.2:c.513A>C | ||
| ENST00000527311.7:c.233A>C | ENSP00000436695.3:p.Glu78Ala | |
| ENST00000530704.6:c.233A>C | ENSP00000431655.1:p.Glu78Ala | |
| ENST00000641083.1:c.211A>C | ||
| ENST00000641236.1:n.245A>C | ||
| ENST00000641319.1:c.233A>C | ENSP00000493128.1:p.Glu78Ala | |
| ENST00000641471.1:c.320A>C | ENSP00000493146.1:p.Glu107Ala | |
| ENST00000641548.1:c.*85A>C | ENSP00000492984.1:n.*85A>C | |
| ENST00000641691.1:c.*85A>C | ENSP00000492910.1:n.*85A>C | |
| ENST00000641924.1:c.124+4716A>C | ENSP00000493063.1:n.124+4716A>C | |
| ENST00000642050.2:c.233A>C MANE Select | ENSP00000493153.1:p.Glu78Ala | |
| ENST00000372779.8:c.320A>C | ENSP00000361865.4:p.Glu107Ala | |
| ENST00000433473.7:c.233A>C | ENSP00000394863.3:p.Glu78Ala | |
| ENST00000449045.6:c.125-2887A>C | ENSP00000392293.2:n.125-2887A>C | |
| ENST00000526547.1:c.83A>C | ENSP00000436481.1:p.Glu28Ala | |
| ENST00000527311.6:c.125-342A>C | ENSP00000436695.2:n.125-342A>C | |
| ENST00000529905.5:c.233A>C | ENSP00000432053.1:p.Glu78Ala | |
| ENST00000530704.5:c.233A>C | ENSP00000431655.1:p.Glu78Ala | |
| NM_000310.3:c.233A>C , LRG_690t1:c.233A>C | NP_000301.1:p.Glu78Ala | |
| NM_001142604.1:c.125-2887A>C | NP_001136076.1:n.125-2887A>C | |
| XM_005271008.1:c.233A>C | XP_005271065.1:p.Glu78Ala | |
| NM_001363695.1:c.233A>C | NP_001350624.1:p.Glu78Ala | |
| NM_000310.4:c.233A>C MANE Select | NP_000301.1:p.Glu78Ala | |
| NM_001142604.2:c.125-2887A>C | NP_001136076.1:n.125-2887A>C | |
| NM_001363695.2:c.233A>C | NP_001350624.1:p.Glu78Ala |