Linked Data
ClinVar Variation Id:
456254
dbSNP Id:
rs148810507
ExAC:
14:45633647 A / G
gnomAD v2:
14-45633647-A-G
gnomAD v3:
14-45164444-A-G
gnomAD v4:
14-45164444-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45164444A>G , CM000676.2:g.45164444A>G | GRCh38 |
| NC_000014.8:g.45633647A>G , CM000676.1:g.45633647A>G | GRCh37 |
| NC_000014.7:g.44703397A>G | NCBI36 |
| NG_007417.1:g.33512A>G , LRG_502:g.33512A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556036.6:c.1667A>G | ENSP00000450596.1:p.Asp556Gly | |
| ENST00000556250.6:c.1582-2506A>G | ENSP00000452033.2:n.1582-2506A>G | |
| ENST00000696641.1:c.1508A>G | ENSP00000512774.1:p.Asp503Gly | |
| ENST00000696642.1:c.*478A>G | ENSP00000512775.1:n.*478A>G | |
| ENST00000696646.1:c.*478A>G | ENSP00000512777.1:n.*478A>G | |
| ENST00000696647.1:c.1667A>G | ENSP00000512778.1:p.Asp556Gly | |
| ENST00000696648.1:c.1667A>G | ENSP00000512779.1:p.Asp556Gly | |
| ENST00000696649.1:c.1667A>G | ENSP00000512780.1:p.Asp556Gly | |
| ENST00000696650.1:n.1615A>G | ||
| ENST00000696658.1:n.2217A>G | ||
| ENST00000696662.1:c.1589A>G | ENSP00000512788.1:p.Asp530Gly | |
| ENST00000696663.1:c.484A>G | ||
| ENST00000696664.1:c.484A>G | ||
| ENST00000696675.1:c.1667A>G | ENSP00000512799.1:p.Asp556Gly | |
| ENST00000696682.1:c.1667A>G | ENSP00000512805.1:p.Asp556Gly | |
| ENST00000696683.1:c.484A>G | ||
| ENST00000696684.1:c.484A>G | ||
| ENST00000696685.1:c.484A>G | ||
| ENST00000267430.10:c.1667A>G MANE Select | ENSP00000267430.5:p.Asp556Gly | |
| ENST00000267430.9:c.1667A>G | ENSP00000267430.5:p.Asp556Gly | |
| ENST00000542564.6:c.1589A>G | ENSP00000442493.2:p.Asp530Gly | |
| ENST00000556036.5:c.1667A>G | ENSP00000450596.1:p.Asp556Gly | |
| ENST00000556250.5:c.337-2506A>G | ENSP00000452033.1:n.337-2506A>G | |
| NM_001308133.1:c.1589A>G | NP_001295062.1:p.Asp530Gly | |
| NM_001308134.1:c.1667A>G | NP_001295063.1:p.Asp556Gly | |
| NM_020937.2:c.1667A>G , LRG_502t1:c.1667A>G | NP_065988.1:p.Asp556Gly | |
| NM_020937.3:c.1667A>G | NP_065988.1:p.Asp556Gly | |
| XM_011537034.1:c.1667A>G | XP_011535336.1:p.Asp556Gly | |
| XM_011537035.1:c.1589A>G | XP_011535337.1:p.Asp530Gly | |
| XM_011537036.1:c.1667A>G | XP_011535338.1:p.Asp556Gly | |
| XM_011537034.2:c.1667A>G | XP_011535336.1:p.Asp556Gly | |
| XM_011537035.3:c.1589A>G | XP_011535337.1:p.Asp530Gly | |
| XM_017021523.1:c.1667A>G | XP_016877012.1:p.Asp556Gly | |
| XM_017021524.2:c.704A>G | XP_016877013.1:p.Asp235Gly | |
| XM_017021525.2:c.482A>G | XP_016877014.1:p.Asp161Gly | |
| XM_017021526.2:c.482A>G | XP_016877015.1:p.Asp161Gly | |
| XM_017021527.1:c.482A>G | XP_016877016.1:p.Asp161Gly | |
| XR_001750470.1:n.1759A>G | ||
| XR_001750471.2:n.1759A>G | ||
| XR_001750472.1:n.1759A>G | ||
| NM_020937.4:c.1667A>G MANE Select | NP_065988.1:p.Asp556Gly | |
| NM_001308133.2:c.1589A>G | NP_001295062.1:p.Asp530Gly | |
| NM_001308134.2:c.1667A>G | NP_001295063.1:p.Asp556Gly |