Linked Data
ClinVar Variation Id:
1054801
dbSNP Id:
rs759104121
ExAC:
7:45077981 G / A
gnomAD v2:
7-45077981-G-A
gnomAD v3:
7-45038382-G-A
gnomAD v4:
7-45038382-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45038382G>A , CM000669.2:g.45038382G>A | GRCh38 |
| NC_000007.13:g.45077981G>A , CM000669.1:g.45077981G>A | GRCh37 |
| NC_000007.12:g.45044506G>A | NCBI36 |
| NG_016295.1:g.43195G>A , LRG_664:g.43195G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258781.11:c.160G>A MANE Select | ENSP00000258781.7:p.Glu54Lys | |
| ENST00000648329.1:c.160G>A | ENSP00000496916.1:p.Glu54Lys | |
| ENST00000258781.10:c.160G>A | ENSP00000258781.6:p.Glu54Lys | |
| ENST00000381112.7:c.223G>A | ENSP00000370503.3:p.Glu75Lys | |
| ENST00000461377.5:n.513G>A | ||
| ENST00000472223.5:n.227G>A | ||
| ENST00000474617.1:c.142G>A | ENSP00000419474.1:p.Glu48Lys | |
| ENST00000475551.5:c.142G>A | ENSP00000417180.1:p.Glu48Lys | |
| ENST00000476594.1:n.122G>A | ||
| ENST00000478169.5:n.382G>A | ||
| ENST00000478582.5:n.371G>A | ||
| ENST00000480658.5:n.256G>A | ||
| ENST00000482714.5:n.126+10585G>A | ||
| ENST00000488727.5:c.160G>A | ENSP00000417251.1:p.Glu54Lys | |
| ENST00000492883.5:n.256G>A | ||
| ENST00000541586.5:c.31-25536G>A | ENSP00000444725.1:n.31-25536G>A | |
| ENST00000544363.5:c.160G>A | ENSP00000438035.1:p.Glu54Lys | |
| NM_001029835.2:c.223G>A , LRG_664t1:c.223G>A | NP_001025006.1:p.Glu75Lys | |
| NM_001167934.1:c.31-25536G>A | NP_001161406.1:n.31-25536G>A | |
| NM_001167935.1:c.160G>A | NP_001161407.1:p.Glu54Lys | |
| NM_031443.3:c.160G>A , LRG_664t2:c.160G>A | NP_113631.1:p.Glu54Lys | |
| NR_030770.1:n.242G>A | ||
| XM_006715785.2:c.93+10585G>A | XP_006715848.1:n.93+10585G>A | |
| XM_006715786.2:c.223G>A | XP_006715849.1:p.Glu75Lys | |
| XM_011515561.1:c.223G>A | XP_011513863.1:p.Glu75Lys | |
| XM_011515562.1:c.160G>A | XP_011513864.1:p.Glu54Lys | |
| XM_011515563.1:c.93+10585G>A | XP_011513865.1:n.93+10585G>A | |
| XM_011515564.1:c.31-25536G>A | XP_011513866.1:n.31-25536G>A | |
| XR_428088.2:n.236G>A | ||
| NM_001363458.1:c.160G>A | NP_001350387.1:p.Glu54Lys | |
| NM_001363459.1:c.31-25536G>A | NP_001350388.1:n.31-25536G>A | |
| XM_006715785.4:c.93+10585G>A | XP_006715848.1:n.93+10585G>A | |
| XM_006715786.3:c.223G>A | XP_006715849.1:p.Glu75Lys | |
| XM_011515561.2:c.223G>A | XP_011513863.1:p.Glu75Lys | |
| XM_011515563.3:c.93+10585G>A | XP_011513865.1:n.93+10585G>A | |
| XM_017012671.1:c.223G>A | XP_016868160.1:p.Glu75Lys | |
| XM_017012672.2:c.93+10585G>A | XP_016868161.1:n.93+10585G>A | |
| XM_017012673.1:c.31-25536G>A | XP_016868162.1:n.31-25536G>A | |
| XR_428088.3:n.256G>A | ||
| NM_001363458.2:c.160G>A | NP_001350387.1:p.Glu54Lys | |
| NM_001363459.2:c.31-25536G>A | NP_001350388.1:n.31-25536G>A | |
| NM_031443.4:c.160G>A MANE Select | NP_113631.1:p.Glu54Lys | |
| NR_030770.2:n.242G>A | ||
| NM_001167934.2:c.31-25536G>A | NP_001161406.1:n.31-25536G>A | |
| NM_001167935.2:c.160G>A | NP_001161407.1:p.Glu54Lys |