Linked Data
ClinVar Variation Id:
90999
ClinVar RCV Id:
RCV000164439
RCV000484878
RCV000541354
RCV000656884
RCV000663223
RCV001356683
RCV003997165
dbSNP Id:
rs63750797
ExAC:
2:47707934 A / C
gnomAD v2:
2-47707934-A-C
gnomAD v3:
2-47480795-A-C
gnomAD v4:
2-47480795-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47480795A>C , CM000664.2:g.47480795A>C | GRCh38 |
| NC_000002.11:g.47707934A>C , CM000664.1:g.47707934A>C | GRCh37 |
| NC_000002.10:g.47561438A>C | NCBI36 |
| NG_007110.2:g.82672A>C , LRG_218:g.82672A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2558A>C | ENSP00000495641.2:p.Glu853Ala | |
| ENST00000233146.7:c.2558A>C MANE Select | ENSP00000233146.2:p.Glu853Ala | |
| ENST00000543555.6:c.2360A>C | ENSP00000442697.1:p.Glu787Ala | |
| ENST00000644092.1:c.*858A>C | ENSP00000496351.1:n.*858A>C | |
| ENST00000644900.1:c.411A>C | ||
| ENST00000645339.1:c.2558A>C | ENSP00000496441.1:p.Glu853Ala | |
| ENST00000645506.1:c.2558A>C | ENSP00000495455.1:p.Glu853Ala | |
| ENST00000646415.1:c.2558A>C | ENSP00000495543.1:p.Glu853Ala | |
| ENST00000233146.6:c.2558A>C | ENSP00000233146.2:p.Glu853Ala | |
| ENST00000406134.5:c.2558A>C | ENSP00000384199.1:p.Glu853Ala | |
| ENST00000543555.5:c.2360A>C | ENSP00000442697.1:p.Glu787Ala | |
| ENST00000610696.4:c.*954A>C | ENSP00000483159.1:n.*954A>C | |
| ENST00000613514.4:c.*1098A>C | ENSP00000484137.1:n.*1098A>C | |
| ENST00000617333.3:c.*1324A>C | ENSP00000482468.1:n.*1324A>C | |
| ENST00000617938.4:c.*1530A>C | ENSP00000481158.1:n.*1530A>C | |
| ENST00000621359.2:c.*124A>C | ENSP00000481416.1:n.*124A>C | |
| NM_000251.2:c.2558A>C , LRG_218t1:c.2558A>C | NP_000242.1:p.Glu853Ala | |
| NM_001258281.1:c.2360A>C | NP_001245210.1:p.Glu787Ala | |
| XM_005264332.2:c.2558A>C | XP_005264389.2:p.Glu853Ala | |
| XM_011532867.1:c.2558A>C | XP_011531169.1:p.Glu853Ala | |
| XR_939685.1:n.2630A>C | ||
| XM_005264332.4:c.2558A>C | XP_005264389.2:p.Glu853Ala | |
| XM_011532867.2:c.2558A>C | XP_011531169.1:p.Glu853Ala | |
| XR_001738747.2:n.2620A>C | ||
| XR_939685.2:n.2620A>C | ||
| NM_000251.3:c.2558A>C MANE Select | NP_000242.1:p.Glu853Ala |