Linked Data
ClinVar Variation Id:
424422
dbSNP Id:
rs772795484
ExAC:
4:56230312 G / A
gnomAD v2:
4-56230312-G-A
gnomAD v3:
4-55364145-G-A
gnomAD v4:
4-55364145-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55364145G>A , CM000666.2:g.55364145G>A | GRCh38 |
| NC_000004.11:g.56230312G>A , CM000666.1:g.56230312G>A | GRCh37 |
| NC_000004.10:g.55925069G>A | NCBI36 |
| NG_028230.1:g.22925G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264228.9:c.436G>A MANE Select | ENSP00000264228.4:p.Glu146Lys | |
| ENST00000677177.2:c.283G>A | ||
| ENST00000677217.1:n.308G>A | ||
| ENST00000678717.1:n.333G>A | ||
| ENST00000679351.1:c.*42G>A | ENSP00000505676.1:n.*42G>A | |
| ENST00000679707.1:c.436G>A | ENSP00000505713.1:p.Glu146Lys | |
| ENST00000679836.1:c.436G>A | ENSP00000506601.1:p.Glu146Lys | |
| ENST00000680700.1:c.436G>A | ENSP00000504926.1:p.Glu146Lys | |
| ENST00000264228.8:c.436G>A | ENSP00000264228.4:p.Glu146Lys | |
| ENST00000505210.1:c.289+4657G>A | ENSP00000424714.1:n.289+4657G>A | |
| ENST00000514398.1:n.445G>A | ||
| NM_024592.4:c.436G>A | NP_078868.1:p.Glu146Lys | |
| XM_005265766.2:c.436G>A | XP_005265823.1:p.Glu146Lys | |
| XM_005265767.2:c.364+4657G>A | XP_005265824.1:n.364+4657G>A | |
| XM_005265766.4:c.436G>A | XP_005265823.1:p.Glu146Lys | |
| XM_005265767.3:c.364+4657G>A | XP_005265824.1:n.364+4657G>A | |
| XM_017008601.1:c.301G>A | XP_016864090.1:p.Glu101Lys | |
| NM_024592.5:c.436G>A MANE Select | NP_078868.1:p.Glu146Lys |