Linked Data
ClinVar Variation Id:
43299
dbSNP Id:
rs111033192
gnomAD v2:
11-76918415-G-A
gnomAD v4:
11-77207370-G-A
COSMIC:
COSM3453490
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77207370G>A , CM000673.2:g.77207370G>A | GRCh38 |
| NC_000011.9:g.76918415G>A , CM000673.1:g.76918415G>A | GRCh37 |
| NC_000011.8:g.76596063G>A | NCBI36 |
| NG_009086.1:g.84106G>A | |
| NG_009086.2:g.84125G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5824G>A MANE Select | ENSP00000386331.3:p.Gly1942Arg | |
| ENST00000670577.1:c.3651G>A | ||
| ENST00000409619.6:c.5677G>A | ENSP00000386635.2:p.Gly1893Arg | |
| ENST00000409709.7:c.5824G>A | ENSP00000386331.3:p.Gly1942Arg | |
| ENST00000458169.2:c.3250G>A | ENSP00000417017.2:p.Gly1084Arg | |
| ENST00000458637.6:c.5710G>A | ENSP00000392185.2:p.Gly1904Arg | |
| ENST00000481328.7:n.3360G>A | ||
| ENST00000605744.1:n.738G>A | ||
| NM_000260.3:c.5824G>A | NP_000251.3:p.Gly1942Arg | |
| NM_001127180.1:c.5710G>A | NP_001120652.1:p.Gly1904Arg | |
| XM_005274012.2:c.5707G>A | XP_005274069.1:p.Gly1903Arg | |
| XM_006718558.2:c.5815G>A | XP_006718621.1:p.Gly1939Arg | |
| XM_006718559.2:c.5710G>A | XP_006718622.1:p.Gly1904Arg | |
| XM_006718560.2:c.5707G>A | XP_006718623.1:p.Gly1903Arg | |
| XM_006718561.2:c.5710G>A | XP_006718624.1:p.Gly1904Arg | |
| XM_011545044.1:c.5824G>A | XP_011543346.1:p.Gly1942Arg | |
| XM_011545045.1:c.5818G>A | XP_011543347.1:p.Gly1940Arg | |
| XM_011545046.1:c.5791G>A | XP_011543348.1:p.Gly1931Arg | |
| XM_011545047.1:c.5728G>A | XP_011543349.1:p.Gly1910Arg | |
| XM_011545048.1:c.5599G>A | XP_011543350.1:p.Gly1867Arg | |
| XM_011545049.1:c.5587G>A | XP_011543351.1:p.Gly1863Arg | |
| XM_011545050.1:c.5560G>A | XP_011543352.1:p.Gly1854Arg | |
| XM_011545051.1:c.5824G>A | XP_011543353.1:p.Gly1942Arg | |
| XR_949938.1:n.6144G>A | ||
| XR_949941.1:n.6144G>A | ||
| XM_011545044.2:c.5824G>A | XP_011543346.1:p.Gly1942Arg | |
| XM_011545046.2:c.5914G>A | XP_011543348.2:p.Gly1972Arg | |
| XM_011545050.2:c.5560G>A | XP_011543352.1:p.Gly1854Arg | |
| XM_017017778.1:c.5908G>A | XP_016873267.1:p.Gly1970Arg | |
| XM_017017779.1:c.5905G>A | XP_016873268.1:p.Gly1969Arg | |
| XM_017017780.1:c.5914G>A | XP_016873269.1:p.Gly1972Arg | |
| XM_017017781.1:c.5818G>A | XP_016873270.1:p.Gly1940Arg | |
| XM_017017782.1:c.5800G>A | XP_016873271.1:p.Gly1934Arg | |
| XM_017017783.1:c.5797G>A | XP_016873272.1:p.Gly1933Arg | |
| XM_017017784.1:c.5797G>A | XP_016873273.1:p.Gly1933Arg | |
| XM_017017785.1:c.5677G>A | XP_016873274.1:p.Gly1893Arg | |
| XM_017017786.1:c.5914G>A | XP_016873275.1:p.Gly1972Arg | |
| XM_017017788.1:c.5800G>A | XP_016873277.1:p.Gly1934Arg | |
| XR_001747885.1:n.5929G>A | ||
| XR_001747886.1:n.5844G>A | ||
| XR_001747887.1:n.5915G>A | ||
| NM_000260.4:c.5824G>A MANE Select | NP_000251.3:p.Gly1942Arg | |
| NM_001127180.2:c.5710G>A | NP_001120652.1:p.Gly1904Arg | |
| NM_001369365.1:c.5677G>A | NP_001356294.1:p.Gly1893Arg |