Linked Data
ClinVar Variation Id:
430139
dbSNP Id:
rs765338121
ExAC:
9:133364728 G / A
gnomAD v2:
9-133364728-G-A
gnomAD v3:
9-130489341-G-A
gnomAD v4:
9-130489341-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489341G>A , CM000671.2:g.130489341G>A | GRCh38 |
| NC_000009.11:g.133364728G>A , CM000671.1:g.133364728G>A | GRCh37 |
| NC_000009.10:g.132354549G>A | NCBI36 |
| NG_011542.1:g.49635G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.847G>A MANE Select | ENSP00000253004.6:p.Glu283Lys | |
| ENST00000352480.9:c.847G>A | ENSP00000253004.6:p.Glu283Lys | |
| ENST00000372386.6:n.118G>A | ||
| ENST00000372393.7:c.847G>A | ENSP00000361469.2:p.Glu283Lys | |
| ENST00000372394.5:c.847G>A | ENSP00000361471.1:p.Glu283Lys | |
| ENST00000470849.4:n.572G>A | ||
| ENST00000492400.5:n.356G>A | ||
| ENST00000493984.6:n.624G>A | ||
| NM_000050.4:c.847G>A | NP_000041.2:p.Glu283Lys | |
| NM_054012.3:c.847G>A | NP_446464.1:p.Glu283Lys | |
| XM_005272200.2:c.847G>A | XP_005272257.1:p.Glu283Lys | |
| XM_011518705.1:c.961G>A | XP_011517007.1:p.Glu321Lys | |
| XM_005272200.3:c.847G>A | XP_005272257.1:p.Glu283Lys | |
| XM_011518705.2:c.961G>A | XP_011517007.1:p.Glu321Lys | |
| XM_017014729.1:c.943G>A | XP_016870218.1:p.Glu315Lys | |
| NM_054012.4:c.847G>A MANE Select | NP_446464.1:p.Glu283Lys |