Linked Data
ClinVar Variation Id:
55747
dbSNP Id:
rs80356861
gnomAD v2:
17-41246648-T-G
gnomAD v4:
17-43094631-T-G
PubMed:
PMID:10923033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094631T>G , CM000679.2:g.43094631T>G | GRCh38 |
| NC_000017.10:g.41246648T>G , CM000679.1:g.41246648T>G | GRCh37 |
| NC_000017.9:g.38500174T>G | NCBI36 |
| NG_005905.2:g.123353A>C , LRG_292:g.123353A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.964A>C | ||
| ENST00000461574.2:c.900A>C | ENSP00000417241.2:p.Glu300Asp | |
| ENST00000470026.6:c.900A>C | ENSP00000419274.2:p.Glu300Asp | |
| ENST00000473961.6:c.774A>C | ENSP00000420201.2:p.Glu258Asp | |
| ENST00000476777.6:c.897A>C | ENSP00000417554.2:p.Glu299Asp | |
| ENST00000477152.6:c.822A>C | ENSP00000419988.2:p.Glu274Asp | |
| ENST00000478531.6:c.784+113A>C | ENSP00000420412.2:n.784+113A>C | |
| ENST00000489037.2:c.822A>C | ENSP00000420781.2:p.Glu274Asp | |
| ENST00000493919.6:c.646+113A>C | ENSP00000418819.2:n.646+113A>C | |
| ENST00000494123.6:c.900A>C | ENSP00000419103.2:p.Glu300Asp | |
| ENST00000497488.2:c.12A>C | ENSP00000418986.2:p.Glu4Asp | |
| ENST00000618469.2:c.900A>C | ENSP00000478114.2:p.Glu300Asp | |
| ENST00000634433.2:c.777A>C | ENSP00000489431.2:p.Glu259Asp | |
| ENST00000644379.2:c.900A>C | ENSP00000496570.2:p.Glu300Asp | |
| ENST00000644555.2:c.646+113A>C | ENSP00000494614.2:n.646+113A>C | |
| ENST00000652672.2:c.759A>C | ENSP00000498906.2:p.Glu253Asp | |
| ENST00000484087.6:c.664+113A>C | ENSP00000419481.2:n.664+113A>C | |
| ENST00000700182.1:c.706+113A>C | ENSP00000514849.1:n.706+113A>C | |
| ENST00000700183.1:c.*908A>C | ENSP00000514850.1:n.*908A>C | |
| ENST00000357654.9:c.900A>C MANE Select | ENSP00000350283.3:p.Glu300Asp | |
| ENST00000471181.7:c.900A>C | ENSP00000418960.2:p.Glu300Asp | |
| ENST00000642945.1:c.*774A>C | ENSP00000495897.1:n.*774A>C | |
| ENST00000652672.1:c.759A>C | ENSP00000498906.1:p.Glu253Asp | |
| ENST00000352993.7:c.670+1215A>C | ENSP00000312236.5:n.670+1215A>C | |
| ENST00000354071.7:c.900A>C | ENSP00000326002.7:p.Glu300Asp | |
| ENST00000357654.7:c.900A>C | ENSP00000350283.3:p.Glu300Asp | |
| ENST00000412061.3:c.251A>C | ||
| ENST00000461221.5:c.*683A>C | ENSP00000418548.1:n.*683A>C | |
| ENST00000468300.5:c.787+113A>C | ENSP00000417148.1:n.787+113A>C | |
| ENST00000470026.5:c.900A>C | ENSP00000419274.1:p.Glu300Asp | |
| ENST00000471181.6:c.900A>C | ENSP00000418960.2:p.Glu300Asp | |
| ENST00000473961.5:c.497A>C | ||
| ENST00000477152.5:c.822A>C | ENSP00000419988.1:p.Glu274Asp | |
| ENST00000478531.5:c.784+113A>C | ENSP00000420412.1:n.784+113A>C | |
| ENST00000484087.5:c.409+113A>C | ENSP00000419481.1:n.409+113A>C | |
| ENST00000487825.5:c.412+113A>C | ENSP00000418212.1:n.412+113A>C | |
| ENST00000491747.6:c.787+113A>C | ENSP00000420705.2:n.787+113A>C | |
| ENST00000492859.5:c.*836A>C | ENSP00000420253.1:n.*836A>C | |
| ENST00000493795.5:c.759A>C | ENSP00000418775.1:p.Glu253Asp | |
| ENST00000493919.5:c.646+113A>C | ENSP00000418819.1:n.646+113A>C | |
| ENST00000494123.5:c.900A>C | ENSP00000419103.1:p.Glu300Asp | |
| ENST00000497488.1:c.12A>C | ENSP00000418986.1:p.Glu4Asp | |
| ENST00000586385.5:c.4+30551A>C | ENSP00000465818.1:n.4+30551A>C | |
| ENST00000591534.5:c.-43-20110A>C | ENSP00000467329.1:n.-43-20110A>C | |
| ENST00000591849.5:c.-99+30640A>C | ENSP00000465347.1:n.-99+30640A>C | |
| ENST00000634433.1:c.777A>C | ENSP00000489431.1:p.Glu259Asp | |
| NM_007294.3:c.900A>C , LRG_292t1:c.900A>C | NP_009225.1:p.Glu300Asp | |
| NM_007297.3:c.759A>C | NP_009228.2:p.Glu253Asp | |
| NM_007298.3:c.787+113A>C | NP_009229.2:n.787+113A>C | |
| NM_007299.3:c.787+113A>C | NP_009230.2:n.787+113A>C | |
| NM_007300.3:c.900A>C | NP_009231.2:p.Glu300Asp | |
| NR_027676.1:n.1036A>C | ||
| NM_007294.4:c.900A>C MANE Select | NP_009225.1:p.Glu300Asp | |
| NM_007297.4:c.759A>C | NP_009228.2:p.Glu253Asp | |
| NM_007299.4:c.787+113A>C | NP_009230.2:n.787+113A>C | |
| NM_007300.4:c.900A>C | NP_009231.2:p.Glu300Asp | |
| NR_027676.2:n.1077A>C |