Linked Data
ClinVar Variation Id:
1052755
ClinVar RCV Id:
RCV001360998
dbSNP Id:
rs1277596729
gnomAD v4:
5-132557332-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132557332G>A , CM000667.2:g.132557332G>A | GRCh38 |
| NC_000005.9:g.131893024G>A , CM000667.1:g.131893024G>A | GRCh37 |
| NC_000005.8:g.131920923G>A | NCBI36 |
| NG_021151.1:g.5409G>A | |
| NG_021151.2:g.5356G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.8G>A MANE Select | ENSP00000368100.4:p.Arg3Gln | |
| ENST00000638452.2:c.-168-1952G>A | ENSP00000492349.2:n.-168-1952G>A | |
| ENST00000638504.1:n.207-1952G>A | ||
| ENST00000638568.2:c.-169+859G>A | ENSP00000491158.2:n.-169+859G>A | |
| ENST00000639899.1:n.290-1952G>A | ||
| ENST00000640655.2:c.-168-1952G>A | ENSP00000491596.2:n.-168-1952G>A | |
| ENST00000651160.1:c.8G>A | ENSP00000498829.1:p.Arg3Gln | |
| ENST00000651541.1:c.-169+323G>A | ENSP00000498795.1:n.-169+323G>A | |
| ENST00000651658.1:n.76G>A | ||
| ENST00000651723.1:c.8G>A | ENSP00000498237.1:p.Arg3Gln | |
| ENST00000652016.1:c.8G>A | ENSP00000498267.1:p.Arg3Gln | |
| ENST00000652485.1:c.8G>A | ENSP00000498973.1:p.Arg3Gln | |
| ENST00000378823.7:c.8G>A | ENSP00000368100.4:p.Arg3Gln | |
| ENST00000416135.5:c.-169+859G>A | ENSP00000389515.1:n.-169+859G>A | |
| ENST00000423956.5:c.8G>A | ENSP00000390971.1:p.Arg3Gln | |
| ENST00000453394.5:c.8G>A | ENSP00000400049.1:p.Arg3Gln | |
| ENST00000533482.5:c.8G>A | ENSP00000431225.1:p.Arg3Gln | |
| NM_005732.3:c.8G>A | NP_005723.2:p.Arg3Gln | |
| NM_005732.4:c.8G>A MANE Select | NP_005723.2:p.Arg3Gln |