Linked Data
ClinVar Variation Id:
1798429
ClinVar RCV Id:
RCV002442243
MyVariant Identifiers:
chr5:g.131945037A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609345A>G , CM000667.2:g.132609345A>G | GRCh38 |
| NC_000005.9:g.131945037A>G , CM000667.1:g.131945037A>G | GRCh37 |
| NC_000005.8:g.131972936A>G | NCBI36 |
| NG_021151.1:g.57422A>G | |
| NG_021151.2:g.57369A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.2985A>G MANE Select | ENSP00000368100.4:p.Glu995= | |
| ENST00000638452.2:c.2688A>G | ENSP00000492349.2:p.Glu896= | |
| ENST00000638504.1:n.2593A>G | ||
| ENST00000638568.2:c.2688A>G | ENSP00000491158.2:p.Glu896= | |
| ENST00000639899.1:n.3504A>G | ||
| ENST00000640655.2:c.2688A>G | ENSP00000491596.2:p.Glu896= | |
| ENST00000651723.1:c.*3068A>G | ENSP00000498237.1:n.*3068A>G | |
| ENST00000378823.7:c.2985A>G | ENSP00000368100.4:p.Glu995= | |
| ENST00000533482.5:c.*2611A>G | ENSP00000431225.1:n.*2611A>G | |
| NM_005732.3:c.2985A>G | NP_005723.2:p.Glu995= | |
| NM_005732.4:c.2985A>G MANE Select | NP_005723.2:p.Glu995= |