Linked Data
ClinVar Variation Id:
526466
dbSNP Id:
rs769919966
ExAC:
14:45658251 G / A
gnomAD v2:
14-45658251-G-A
gnomAD v3:
14-45189048-G-A
gnomAD v4:
14-45189048-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45189048G>A , CM000676.2:g.45189048G>A | GRCh38 |
| NC_000014.8:g.45658251G>A , CM000676.1:g.45658251G>A | GRCh37 |
| NC_000014.7:g.44728001G>A | NCBI36 |
| NG_007417.1:g.58116G>A , LRG_502:g.58116G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554809.6:c.3238G>A | ENSP00000450632.2:p.Glu1080Lys | |
| ENST00000555484.2:c.804G>A | ||
| ENST00000556250.6:c.4819G>A | ENSP00000452033.2:p.Glu1607Lys | |
| ENST00000557110.2:c.804G>A | ||
| ENST00000696642.1:c.*3837G>A | ENSP00000512775.1:n.*3837G>A | |
| ENST00000696645.1:n.916G>A | ||
| ENST00000696647.1:c.5026G>A | ENSP00000512778.1:p.Glu1676Lys | |
| ENST00000696648.1:c.*3051G>A | ENSP00000512779.1:n.*3051G>A | |
| ENST00000696649.1:c.4870G>A | ENSP00000512780.1:p.Glu1624Lys | |
| ENST00000696650.1:n.4974G>A | ||
| ENST00000696659.1:c.3024G>A | ||
| ENST00000696663.1:c.3957G>A | ||
| ENST00000696664.1:c.3858G>A | ||
| ENST00000696665.1:c.804G>A | ||
| ENST00000696675.1:c.*782G>A | ENSP00000512799.1:n.*782G>A | |
| ENST00000696683.1:c.3843G>A | ||
| ENST00000696684.1:c.3843G>A | ||
| ENST00000696685.1:c.3843G>A | ||
| ENST00000696686.1:n.1763G>A | ||
| ENST00000267430.10:c.5026G>A MANE Select | ENSP00000267430.5:p.Glu1676Lys | |
| ENST00000267430.9:c.5026G>A | ENSP00000267430.5:p.Glu1676Lys | |
| ENST00000542564.6:c.4948G>A | ENSP00000442493.2:p.Glu1650Lys | |
| ENST00000554809.5:c.1823G>A | ||
| ENST00000556250.5:c.3574G>A | ENSP00000452033.1:p.Glu1192Lys | |
| NM_001308133.1:c.4948G>A | NP_001295062.1:p.Glu1650Lys | |
| NM_020937.2:c.5026G>A , LRG_502t1:c.5026G>A | NP_065988.1:p.Glu1676Lys | |
| NM_020937.3:c.5026G>A | NP_065988.1:p.Glu1676Lys | |
| XM_011537034.1:c.5041G>A | XP_011535336.1:p.Glu1681Lys | |
| XM_011537035.1:c.4963G>A | XP_011535337.1:p.Glu1655Lys | |
| XM_011537036.1:c.5041G>A | XP_011535338.1:p.Glu1681Lys | |
| XM_011537037.1:c.3055G>A | XP_011535339.1:p.Glu1019Lys | |
| XM_011537034.2:c.5041G>A | XP_011535336.1:p.Glu1681Lys | |
| XM_011537035.3:c.4963G>A | XP_011535337.1:p.Glu1655Lys | |
| XM_011537037.3:c.3055G>A | XP_011535339.1:p.Glu1019Lys | |
| XM_017021523.1:c.5041G>A | XP_016877012.1:p.Glu1681Lys | |
| XM_017021524.2:c.4078G>A | XP_016877013.1:p.Glu1360Lys | |
| XM_017021525.2:c.3856G>A | XP_016877014.1:p.Glu1286Lys | |
| XM_017021526.2:c.3856G>A | XP_016877015.1:p.Glu1286Lys | |
| XM_017021527.1:c.3841G>A | XP_016877016.1:p.Glu1281Lys | |
| XR_001750470.1:n.5133G>A | ||
| XR_001750471.2:n.5118G>A | ||
| NM_020937.4:c.5026G>A MANE Select | NP_065988.1:p.Glu1676Lys | |
| NM_001308133.2:c.4948G>A | NP_001295062.1:p.Glu1650Lys |