Linked Data
ClinVar Variation Id:
949024
ClinVar RCV Id:
RCV001220400
dbSNP Id:
rs140640774
ExAC:
8:55538891 A / G
gnomAD v2:
8-55538891-A-G
gnomAD v3:
8-54626331-A-G
gnomAD v4:
8-54626331-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54626331A>G , CM000670.2:g.54626331A>G | GRCh38 |
| NC_000008.10:g.55538891A>G , CM000670.1:g.55538891A>G | GRCh37 |
| NC_000008.9:g.55701444A>G | NCBI36 |
| NG_009840.1:g.15265A>G | |
| NG_009840.2:g.15265A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.2449A>G MANE Select | ENSP00000220676.1:p.Lys817Glu | |
| ENST00000636932.1:c.787+4043A>G | ENSP00000489857.1:n.787+4043A>G | |
| ENST00000637698.1:c.787+4043A>G | ENSP00000490104.1:n.787+4043A>G | |
| ENST00000220676.1:c.2449A>G | ENSP00000220676.1:p.Lys817Glu | |
| NM_006269.1:c.2449A>G | NP_006260.1:p.Lys817Glu | |
| XM_017013721.1:c.2470A>G | XP_016869210.1:p.Lys824Glu | |
| XM_017013722.1:c.2449A>G | XP_016869211.1:p.Lys817Glu | |
| NM_001375654.1:c.787+4043A>G | NP_001362583.1:n.787+4043A>G | |
| NM_006269.2:c.2449A>G MANE Select | NP_006260.1:p.Lys817Glu |