Linked Data
ClinVar Variation Id:
313196
dbSNP Id:
rs143006771
ExAC:
14:45620607 A / C
gnomAD v2:
14-45620607-A-C
gnomAD v3:
14-45151404-A-C
gnomAD v4:
14-45151404-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45151404A>C , CM000676.2:g.45151404A>C | GRCh38 |
| NC_000014.8:g.45620607A>C , CM000676.1:g.45620607A>C | GRCh37 |
| NC_000014.7:g.44690357A>C | NCBI36 |
| NG_007417.1:g.20472A>C , LRG_502:g.20472A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556036.6:c.926A>C | ENSP00000450596.1:p.Glu309Ala | |
| ENST00000556250.6:c.926A>C | ENSP00000452033.2:p.Glu309Ala | |
| ENST00000696641.1:c.767A>C | ENSP00000512774.1:p.Glu256Ala | |
| ENST00000696642.1:c.926A>C | ENSP00000512775.1:p.Glu309Ala | |
| ENST00000696643.1:c.926A>C | ENSP00000512776.1:p.Glu309Ala | |
| ENST00000696646.1:c.848A>C | ENSP00000512777.1:p.Glu283Ala | |
| ENST00000696647.1:c.926A>C | ENSP00000512778.1:p.Glu309Ala | |
| ENST00000696648.1:c.926A>C | ENSP00000512779.1:p.Glu309Ala | |
| ENST00000696649.1:c.926A>C | ENSP00000512780.1:p.Glu309Ala | |
| ENST00000696650.1:n.874A>C | ||
| ENST00000696656.1:n.955A>C | ||
| ENST00000696657.1:c.*144A>C | ENSP00000512784.1:n.*144A>C | |
| ENST00000696658.1:n.1476A>C | ||
| ENST00000696662.1:c.848A>C | ENSP00000512788.1:p.Glu283Ala | |
| ENST00000696675.1:c.926A>C | ENSP00000512799.1:p.Glu309Ala | |
| ENST00000696677.1:c.*340A>C | ENSP00000512801.1:n.*340A>C | |
| ENST00000696678.1:n.877A>C | ||
| ENST00000696679.1:c.*144A>C | ENSP00000512802.1:n.*144A>C | |
| ENST00000696680.1:c.918+2409A>C | ENSP00000512803.1:n.918+2409A>C | |
| ENST00000696681.1:c.926A>C | ENSP00000512804.1:p.Glu309Ala | |
| ENST00000696682.1:c.926A>C | ENSP00000512805.1:p.Glu309Ala | |
| ENST00000267430.10:c.926A>C MANE Select | ENSP00000267430.5:p.Glu309Ala | |
| ENST00000267430.9:c.926A>C | ENSP00000267430.5:p.Glu309Ala | |
| ENST00000542564.6:c.848A>C | ENSP00000442493.2:p.Glu283Ala | |
| ENST00000556036.5:c.926A>C | ENSP00000450596.1:p.Glu309Ala | |
| NM_001308133.1:c.848A>C | NP_001295062.1:p.Glu283Ala | |
| NM_001308134.1:c.926A>C | NP_001295063.1:p.Glu309Ala | |
| NM_020937.2:c.926A>C , LRG_502t1:c.926A>C | NP_065988.1:p.Glu309Ala | |
| NM_020937.3:c.926A>C | NP_065988.1:p.Glu309Ala | |
| XM_011537034.1:c.926A>C | XP_011535336.1:p.Glu309Ala | |
| XM_011537035.1:c.848A>C | XP_011535337.1:p.Glu283Ala | |
| XM_011537036.1:c.926A>C | XP_011535338.1:p.Glu309Ala | |
| XM_011537034.2:c.926A>C | XP_011535336.1:p.Glu309Ala | |
| XM_011537035.3:c.848A>C | XP_011535337.1:p.Glu283Ala | |
| XM_017021523.1:c.926A>C | XP_016877012.1:p.Glu309Ala | |
| XM_017021524.2:c.-38A>C | XP_016877013.1:n.-38A>C | |
| XM_017021525.2:c.-127A>C | XP_016877014.1:n.-127A>C | |
| XM_017021526.2:c.-127A>C | XP_016877015.1:n.-127A>C | |
| XM_017021527.1:c.-127A>C | XP_016877016.1:n.-127A>C | |
| XR_001750470.1:n.1018A>C | ||
| XR_001750471.2:n.1018A>C | ||
| XR_001750472.1:n.1018A>C | ||
| NM_020937.4:c.926A>C MANE Select | NP_065988.1:p.Glu309Ala | |
| NM_001308133.2:c.848A>C | NP_001295062.1:p.Glu283Ala | |
| NM_001308134.2:c.926A>C | NP_001295063.1:p.Glu309Ala |