Linked Data
ClinVar Variation Id:
2775478
ClinVar RCV Id:
RCV003609302
dbSNP Id:
rs267606949
ExAC:
1:120269520 C / A
gnomAD v2:
1-120269520-C-A
gnomAD v4:
1-119726897-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119726897C>A , CM000663.2:g.119726897C>A | GRCh38 |
| NC_000001.10:g.120269520C>A , CM000663.1:g.120269520C>A | GRCh37 |
| NC_000001.9:g.120071043C>A | NCBI36 |
| NG_009188.1:g.20102C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369409.9:c.403C>A | ENSP00000358417.5:p.Arg135= | |
| ENST00000462324.2:n.486C>A | ||
| ENST00000641023.2:c.403C>A MANE Select | ENSP00000493175.1:p.Arg135= | |
| ENST00000641074.1:c.403C>A | ENSP00000493446.1:p.Arg135= | |
| ENST00000641115.1:c.403C>A | ENSP00000493264.1:p.Arg135= | |
| ENST00000641213.1:c.*56C>A | ENSP00000493079.1:n.*56C>A | |
| ENST00000641247.1:c.*122C>A | ENSP00000492955.1:n.*122C>A | |
| ENST00000641272.1:c.337C>A | ENSP00000493432.1:p.Arg113= | |
| ENST00000641314.1:n.388C>A | ||
| ENST00000641371.1:c.317C>A | ENSP00000493305.1:p.Ala106Glu | |
| ENST00000641375.1:c.*239C>A | ENSP00000493089.1:n.*239C>A | |
| ENST00000641491.1:c.*56C>A | ENSP00000493187.1:n.*56C>A | |
| ENST00000641513.1:c.*147C>A | ENSP00000493398.1:n.*147C>A | |
| ENST00000641570.1:c.*122C>A | ENSP00000493213.1:n.*122C>A | |
| ENST00000641573.1:n.491C>A | ||
| ENST00000641587.1:c.*114C>A | ENSP00000493453.1:n.*114C>A | |
| ENST00000641597.1:c.403C>A | ENSP00000493382.1:p.Arg135= | |
| ENST00000641711.1:n.627C>A | ||
| ENST00000641756.1:c.*147C>A | ENSP00000493147.1:n.*147C>A | |
| ENST00000641811.1:c.159C>A | ||
| ENST00000641847.1:n.262C>A | ||
| ENST00000641891.1:c.*229C>A | ENSP00000493288.1:n.*229C>A | |
| ENST00000641927.1:n.343C>A | ||
| ENST00000641947.1:c.403C>A | ENSP00000492994.1:p.Arg135= | |
| ENST00000642021.1:n.525C>A | ||
| ENST00000642041.1:c.*442C>A | ENSP00000493415.1:n.*442C>A | |
| ENST00000369407.3:c.301C>A | ENSP00000358415.3:p.Arg101= | |
| ENST00000369409.8:c.403C>A | ENSP00000358417.4:p.Arg135= | |
| ENST00000462324.1:n.671C>A | ||
| ENST00000493622.5:n.592C>A | ||
| NM_006623.3:c.403C>A | NP_006614.2:p.Arg135= | |
| XM_011541226.1:c.625C>A | XP_011539528.1:p.Arg209= | |
| XM_011541227.1:c.547C>A | XP_011539529.1:p.Arg183= | |
| XM_011541228.1:c.514C>A | XP_011539530.1:p.Arg172= | |
| XM_011541229.1:c.340C>A | XP_011539531.1:p.Arg114= | |
| XM_011541230.1:c.118C>A | XP_011539532.1:p.Arg40= | |
| XM_011541231.1:c.109C>A | XP_011539533.1:p.Arg37= | |
| XM_011541226.2:c.625C>A | XP_011539528.1:p.Arg209= | |
| XM_011541227.2:c.547C>A | XP_011539529.1:p.Arg183= | |
| XM_011541228.2:c.514C>A | XP_011539530.1:p.Arg172= | |
| XM_011541231.2:c.109C>A | XP_011539533.1:p.Arg37= | |
| XM_024446338.1:c.514C>A | XP_024302106.1:p.Arg172= | |
| NM_006623.4:c.403C>A MANE Select | NP_006614.2:p.Arg135= |