Linked Data
ClinVar Variation Id:
139535
dbSNP Id:
rs587777483
ExAC:
1:120269703 G / A
gnomAD v2:
1-120269703-G-A
gnomAD v4:
1-119727080-G-A
COSMIC:
COSM894685
PubMed:
PMID:24836451
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119727080G>A , CM000663.2:g.119727080G>A | GRCh38 |
| NC_000001.10:g.120269703G>A , CM000663.1:g.120269703G>A | GRCh37 |
| NC_000001.9:g.120071226G>A | NCBI36 |
| NG_009188.1:g.20285G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369409.9:c.488G>A | ENSP00000358417.5:p.Arg163Gln | |
| ENST00000462324.2:n.571G>A | ||
| ENST00000641023.2:c.488G>A MANE Select | ENSP00000493175.1:p.Arg163Gln | |
| ENST00000641074.1:c.488G>A | ENSP00000493446.1:p.Arg163Gln | |
| ENST00000641115.1:c.488G>A | ENSP00000493264.1:p.Arg163Gln | |
| ENST00000641213.1:c.*141G>A | ENSP00000493079.1:n.*141G>A | |
| ENST00000641247.1:c.*207G>A | ENSP00000492955.1:n.*207G>A | |
| ENST00000641272.1:c.422G>A | ENSP00000493432.1:p.Arg141Gln | |
| ENST00000641314.1:n.473G>A | ||
| ENST00000641371.1:c.402G>A | ENSP00000493305.1:p.Pro134= | |
| ENST00000641375.1:c.*324G>A | ENSP00000493089.1:n.*324G>A | |
| ENST00000641455.1:n.33G>A | ||
| ENST00000641491.1:c.*141G>A | ENSP00000493187.1:n.*141G>A | |
| ENST00000641570.1:c.*207G>A | ENSP00000493213.1:n.*207G>A | |
| ENST00000641573.1:n.576G>A | ||
| ENST00000641587.1:c.*199G>A | ENSP00000493453.1:n.*199G>A | |
| ENST00000641597.1:c.488G>A | ENSP00000493382.1:p.Arg163Gln | |
| ENST00000641711.1:n.712G>A | ||
| ENST00000641756.1:c.*232G>A | ENSP00000493147.1:n.*232G>A | |
| ENST00000641811.1:c.244G>A | ||
| ENST00000641847.1:n.347G>A | ||
| ENST00000641891.1:c.*314G>A | ENSP00000493288.1:n.*314G>A | |
| ENST00000641927.1:n.428G>A | ||
| ENST00000641947.1:c.488G>A | ENSP00000492994.1:p.Arg163Gln | |
| ENST00000642021.1:n.610G>A | ||
| ENST00000369407.3:c.386G>A | ENSP00000358415.3:p.Arg129Gln | |
| ENST00000369409.8:c.488G>A | ENSP00000358417.4:p.Arg163Gln | |
| ENST00000462324.1:n.756G>A | ||
| ENST00000493622.5:n.677G>A | ||
| NM_006623.3:c.488G>A | NP_006614.2:p.Arg163Gln | |
| XM_011541226.1:c.710G>A | XP_011539528.1:p.Arg237Gln | |
| XM_011541227.1:c.632G>A | XP_011539529.1:p.Arg211Gln | |
| XM_011541228.1:c.599G>A | XP_011539530.1:p.Arg200Gln | |
| XM_011541229.1:c.425G>A | XP_011539531.1:p.Arg142Gln | |
| XM_011541230.1:c.203G>A | XP_011539532.1:p.Arg68Gln | |
| XM_011541231.1:c.194G>A | XP_011539533.1:p.Arg65Gln | |
| XM_011541226.2:c.710G>A | XP_011539528.1:p.Arg237Gln | |
| XM_011541227.2:c.632G>A | XP_011539529.1:p.Arg211Gln | |
| XM_011541228.2:c.599G>A | XP_011539530.1:p.Arg200Gln | |
| XM_011541231.2:c.194G>A | XP_011539533.1:p.Arg65Gln | |
| XM_024446338.1:c.599G>A | XP_024302106.1:p.Arg200Gln | |
| NM_006623.4:c.488G>A MANE Select | NP_006614.2:p.Arg163Gln |