Linked Data
dbSNP Id:
rs774318185
ExAC:
1:120269477 G / A
gnomAD v2:
1-120269477-G-A
gnomAD v4:
1-119726854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119726854G>A , CM000663.2:g.119726854G>A | GRCh38 |
| NC_000001.10:g.120269477G>A , CM000663.1:g.120269477G>A | GRCh37 |
| NC_000001.9:g.120071000G>A | NCBI36 |
| NG_009188.1:g.20059G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369409.9:c.360G>A | ENSP00000358417.5:p.Gln120= | |
| ENST00000462324.2:n.443G>A | ||
| ENST00000641023.2:c.360G>A MANE Select | ENSP00000493175.1:p.Gln120= | |
| ENST00000641074.1:c.360G>A | ENSP00000493446.1:p.Gln120= | |
| ENST00000641115.1:c.360G>A | ENSP00000493264.1:p.Gln120= | |
| ENST00000641213.1:c.*13G>A | ENSP00000493079.1:n.*13G>A | |
| ENST00000641247.1:c.*79G>A | ENSP00000492955.1:n.*79G>A | |
| ENST00000641272.1:c.294G>A | ENSP00000493432.1:p.Gln98= | |
| ENST00000641314.1:n.345G>A | ||
| ENST00000641371.1:c.274G>A | ENSP00000493305.1:p.Asp92Asn | |
| ENST00000641375.1:c.*196G>A | ENSP00000493089.1:n.*196G>A | |
| ENST00000641491.1:c.*13G>A | ENSP00000493187.1:n.*13G>A | |
| ENST00000641513.1:c.*104G>A | ENSP00000493398.1:n.*104G>A | |
| ENST00000641570.1:c.*79G>A | ENSP00000493213.1:n.*79G>A | |
| ENST00000641573.1:n.448G>A | ||
| ENST00000641587.1:c.*71G>A | ENSP00000493453.1:n.*71G>A | |
| ENST00000641597.1:c.360G>A | ENSP00000493382.1:p.Gln120= | |
| ENST00000641711.1:n.584G>A | ||
| ENST00000641756.1:c.*104G>A | ENSP00000493147.1:n.*104G>A | |
| ENST00000641811.1:c.116G>A | ||
| ENST00000641847.1:n.219G>A | ||
| ENST00000641891.1:c.*186G>A | ENSP00000493288.1:n.*186G>A | |
| ENST00000641927.1:n.300G>A | ||
| ENST00000641947.1:c.360G>A | ENSP00000492994.1:p.Gln120= | |
| ENST00000642021.1:n.482G>A | ||
| ENST00000642041.1:c.*399G>A | ENSP00000493415.1:n.*399G>A | |
| ENST00000369407.3:c.258G>A | ENSP00000358415.3:p.Gln86= | |
| ENST00000369409.8:c.360G>A | ENSP00000358417.4:p.Gln120= | |
| ENST00000462324.1:n.628G>A | ||
| ENST00000493622.5:n.549G>A | ||
| NM_006623.3:c.360G>A | NP_006614.2:p.Gln120= | |
| XM_011541226.1:c.582G>A | XP_011539528.1:p.Gln194= | |
| XM_011541227.1:c.504G>A | XP_011539529.1:p.Gln168= | |
| XM_011541228.1:c.471G>A | XP_011539530.1:p.Gln157= | |
| XM_011541229.1:c.297G>A | XP_011539531.1:p.Gln99= | |
| XM_011541230.1:c.75G>A | XP_011539532.1:p.Gln25= | |
| XM_011541231.1:c.66G>A | XP_011539533.1:p.Gln22= | |
| XM_011541226.2:c.582G>A | XP_011539528.1:p.Gln194= | |
| XM_011541227.2:c.504G>A | XP_011539529.1:p.Gln168= | |
| XM_011541228.2:c.471G>A | XP_011539530.1:p.Gln157= | |
| XM_011541231.2:c.66G>A | XP_011539533.1:p.Gln22= | |
| XM_024446338.1:c.471G>A | XP_024302106.1:p.Gln157= | |
| NM_006623.4:c.360G>A MANE Select | NP_006614.2:p.Gln120= |