Linked Data
ClinVar Variation Id:
434766
dbSNP Id:
rs1247205097
gnomAD v2:
15-40764196-G-A
gnomAD v3:
15-40471997-G-A
gnomAD v4:
15-40471997-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40471997G>A , CM000677.2:g.40471997G>A | GRCh38 |
| NC_000015.9:g.40764196G>A , CM000677.1:g.40764196G>A | GRCh37 |
| NC_000015.8:g.38551488G>A | NCBI36 |
| NG_017074.1:g.6037G>A , LRG_600:g.6037G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306243.7:c.784G>A MANE Select | ENSP00000307297.6:p.Glu262Lys | |
| ENST00000306243.6:c.784G>A | ENSP00000307297.5:p.Glu262Lys | |
| ENST00000559991.1:c.709G>A | ENSP00000453882.1:p.Glu237Lys | |
| NM_130468.3:c.784G>A , LRG_600t1:c.784G>A | NP_569735.1:p.Glu262Lys | |
| NM_130468.4:c.784G>A MANE Select | NP_569735.1:p.Glu262Lys |