Linked Data
dbSNP Id:
rs377649493
ExAC:
18:22056897 G / A
gnomAD v2:
18-22056897-G-A
gnomAD v3:
18-24476933-G-A
gnomAD v4:
18-24476933-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24476933G>A , CM000680.2:g.24476933G>A | GRCh38 |
| NC_000018.9:g.22056897G>A , CM000680.1:g.22056897G>A | GRCh37 |
| NC_000018.8:g.20310895G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256906.5:c.544G>A MANE Select | ENSP00000256906.4:p.Glu182Lys | |
| ENST00000256906.4:c.544G>A | ENSP00000256906.4:p.Glu182Lys | |
| ENST00000426880.2:c.280G>A | ENSP00000402526.2:p.Glu94Lys | |
| NM_001143828.1:c.280G>A | NP_001137300.1:p.Glu94Lys | |
| NM_001160166.1:c.*176G>A | NP_001153638.1:n.*176G>A | |
| NM_021624.3:c.544G>A | NP_067637.2:p.Glu182Lys | |
| XM_011526133.1:c.357+7982G>A | XP_011524435.1:n.357+7982G>A | |
| NM_021624.4:c.544G>A MANE Select | NP_067637.2:p.Glu182Lys | |
| NM_001143828.2:c.280G>A | NP_001137300.1:p.Glu94Lys | |
| NM_001160166.2:c.*176G>A | NP_001153638.1:n.*176G>A |