Linked Data
ClinVar Variation Id:
1781950
ClinVar RCV Id:
RCV002415367
gnomAD v4:
5-132594959-G-A
MyVariant Identifiers:
chr5:g.131930651G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132594959G>A , CM000667.2:g.132594959G>A | GRCh38 |
| NC_000005.9:g.131930651G>A , CM000667.1:g.131930651G>A | GRCh37 |
| NC_000005.8:g.131958550G>A | NCBI36 |
| NG_021151.1:g.43036G>A | |
| NG_021151.2:g.42983G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.1884G>A MANE Select | ENSP00000368100.4:p.Lys628= | |
| ENST00000638452.2:c.1587G>A | ENSP00000492349.2:p.Lys529= | |
| ENST00000638504.1:n.1480-145G>A | ||
| ENST00000638568.2:c.1587G>A | ENSP00000491158.2:p.Lys529= | |
| ENST00000639899.1:n.2403G>A | ||
| ENST00000640655.2:c.1587G>A | ENSP00000491596.2:p.Lys529= | |
| ENST00000651160.1:c.*16-145G>A | ENSP00000498829.1:n.*16-145G>A | |
| ENST00000651658.1:n.2427G>A | ||
| ENST00000651723.1:c.*1967G>A | ENSP00000498237.1:n.*1967G>A | |
| ENST00000652016.1:c.*89-145G>A | ENSP00000498267.1:n.*89-145G>A | |
| ENST00000652485.1:c.1917G>A | ENSP00000498973.1:p.Lys639= | |
| ENST00000378823.7:c.1884G>A | ENSP00000368100.4:p.Lys628= | |
| ENST00000423956.5:c.*70G>A | ENSP00000390971.1:n.*70G>A | |
| ENST00000453394.5:c.1701G>A | ENSP00000400049.1:p.Lys567= | |
| ENST00000533482.5:c.*1510G>A | ENSP00000431225.1:n.*1510G>A | |
| NM_005732.3:c.1884G>A | NP_005723.2:p.Lys628= | |
| NM_005732.4:c.1884G>A MANE Select | NP_005723.2:p.Lys628= |