Linked Data
ClinVar Variation Id:
186331
ClinVar RCV Id:
RCV000165910
dbSNP Id:
rs570771738
ExAC:
5:131930627 G / A
gnomAD v2:
5-131930627-G-A
gnomAD v3:
5-132594935-G-A
gnomAD v4:
5-132594935-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132594935G>A , CM000667.2:g.132594935G>A | GRCh38 |
| NC_000005.9:g.131930627G>A , CM000667.1:g.131930627G>A | GRCh37 |
| NC_000005.8:g.131958526G>A | NCBI36 |
| NG_021151.1:g.43012G>A | |
| NG_021151.2:g.42959G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1860G>A MANE Select | ENSP00000368100.4:p.Glu620= | |
| ENST00000638452.2:c.1563G>A | ENSP00000492349.2:p.Glu521= | |
| ENST00000638504.1:n.1480-169G>A | ||
| ENST00000638568.2:c.1563G>A | ENSP00000491158.2:p.Glu521= | |
| ENST00000639899.1:n.2379G>A | ||
| ENST00000640655.2:c.1563G>A | ENSP00000491596.2:p.Glu521= | |
| ENST00000651160.1:c.*16-169G>A | ENSP00000498829.1:n.*16-169G>A | |
| ENST00000651658.1:n.2403G>A | ||
| ENST00000651723.1:c.*1943G>A | ENSP00000498237.1:n.*1943G>A | |
| ENST00000652016.1:c.*89-169G>A | ENSP00000498267.1:n.*89-169G>A | |
| ENST00000652485.1:c.1893G>A | ENSP00000498973.1:p.Glu631= | |
| ENST00000378823.7:c.1860G>A | ENSP00000368100.4:p.Glu620= | |
| ENST00000423956.5:c.*46G>A | ENSP00000390971.1:n.*46G>A | |
| ENST00000453394.5:c.1677G>A | ENSP00000400049.1:p.Glu559= | |
| ENST00000533482.5:c.*1486G>A | ENSP00000431225.1:n.*1486G>A | |
| NM_005732.3:c.1860G>A | NP_005723.2:p.Glu620= | |
| NM_005732.4:c.1860G>A MANE Select | NP_005723.2:p.Glu620= |