Linked Data
ClinVar Variation Id:
2081761
ClinVar RCV Id:
RCV002995596
dbSNP Id:
rs960743288
gnomAD v2:
14-45654472-C-A
gnomAD v3:
14-45185269-C-A
gnomAD v4:
14-45185269-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45185269C>A , CM000676.2:g.45185269C>A | GRCh38 |
| NC_000014.8:g.45654472C>A , CM000676.1:g.45654472C>A | GRCh37 |
| NC_000014.7:g.44724222C>A | NCBI36 |
| NG_007417.1:g.54337C>A , LRG_502:g.54337C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554809.6:c.2780C>A | ENSP00000450632.2:p.Ala927Glu | |
| ENST00000555484.2:c.346C>A | ||
| ENST00000556250.6:c.4361C>A | ENSP00000452033.2:p.Ala1454Glu | |
| ENST00000557110.2:c.346C>A | ||
| ENST00000696642.1:c.*3379C>A | ENSP00000512775.1:n.*3379C>A | |
| ENST00000696644.1:n.304C>A | ||
| ENST00000696645.1:n.458C>A | ||
| ENST00000696647.1:c.4568C>A | ENSP00000512778.1:p.Ala1523Glu | |
| ENST00000696648.1:c.*2593C>A | ENSP00000512779.1:n.*2593C>A | |
| ENST00000696649.1:c.4412C>A | ENSP00000512780.1:p.Ala1471Glu | |
| ENST00000696650.1:n.4516C>A | ||
| ENST00000696659.1:c.2566C>A | ||
| ENST00000696663.1:c.3499C>A | ||
| ENST00000696664.1:c.3400C>A | ||
| ENST00000696665.1:c.346C>A | ||
| ENST00000696675.1:c.*324C>A | ENSP00000512799.1:n.*324C>A | |
| ENST00000696683.1:c.3385C>A | ||
| ENST00000696684.1:c.3385C>A | ||
| ENST00000696685.1:c.3385C>A | ||
| ENST00000696686.1:n.1305C>A | ||
| ENST00000267430.10:c.4568C>A MANE Select | ENSP00000267430.5:p.Ala1523Glu | |
| ENST00000267430.9:c.4568C>A | ENSP00000267430.5:p.Ala1523Glu | |
| ENST00000542564.6:c.4490C>A | ENSP00000442493.2:p.Ala1497Glu | |
| ENST00000554809.5:c.1365C>A | ||
| ENST00000555013.1:n.401C>A | ||
| ENST00000556250.5:c.3116C>A | ENSP00000452033.1:p.Ala1039Glu | |
| NM_001308133.1:c.4490C>A | NP_001295062.1:p.Ala1497Glu | |
| NM_020937.2:c.4568C>A , LRG_502t1:c.4568C>A | NP_065988.1:p.Ala1523Glu | |
| NM_020937.3:c.4568C>A | NP_065988.1:p.Ala1523Glu | |
| XM_011537034.1:c.4583C>A | XP_011535336.1:p.Ala1528Glu | |
| XM_011537035.1:c.4505C>A | XP_011535337.1:p.Ala1502Glu | |
| XM_011537036.1:c.4583C>A | XP_011535338.1:p.Ala1528Glu | |
| XM_011537037.1:c.2597C>A | XP_011535339.1:p.Ala866Glu | |
| XM_011537034.2:c.4583C>A | XP_011535336.1:p.Ala1528Glu | |
| XM_011537035.3:c.4505C>A | XP_011535337.1:p.Ala1502Glu | |
| XM_011537037.3:c.2597C>A | XP_011535339.1:p.Ala866Glu | |
| XM_017021523.1:c.4583C>A | XP_016877012.1:p.Ala1528Glu | |
| XM_017021524.2:c.3620C>A | XP_016877013.1:p.Ala1207Glu | |
| XM_017021525.2:c.3398C>A | XP_016877014.1:p.Ala1133Glu | |
| XM_017021526.2:c.3398C>A | XP_016877015.1:p.Ala1133Glu | |
| XM_017021527.1:c.3383C>A | XP_016877016.1:p.Ala1128Glu | |
| XR_001750470.1:n.4675C>A | ||
| XR_001750471.2:n.4660C>A | ||
| XR_001750472.1:n.4712C>A | ||
| NM_020937.4:c.4568C>A MANE Select | NP_065988.1:p.Ala1523Glu | |
| NM_001308133.2:c.4490C>A | NP_001295062.1:p.Ala1497Glu |