Linked Data
ClinVar Variation Id:
283823
dbSNP Id:
rs570316231
ExAC:
11:76917193 G / A
gnomAD v2:
11-76917193-G-A
gnomAD v3:
11-77206148-G-A
gnomAD v4:
11-77206148-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77206148G>A , CM000673.2:g.77206148G>A | GRCh38 |
| NC_000011.9:g.76917193G>A , CM000673.1:g.76917193G>A | GRCh37 |
| NC_000011.8:g.76594841G>A | NCBI36 |
| NG_009086.1:g.82884G>A | |
| NG_009086.2:g.82903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5688G>A MANE Select | ENSP00000386331.3:p.Gln1896= | |
| ENST00000670577.1:c.3515G>A | ||
| ENST00000409619.6:c.5541G>A | ENSP00000386635.2:p.Gln1847= | |
| ENST00000409709.7:c.5688G>A | ENSP00000386331.3:p.Gln1896= | |
| ENST00000458169.2:c.3114G>A | ENSP00000417017.2:p.Gln1038= | |
| ENST00000458637.6:c.5574G>A | ENSP00000392185.2:p.Gln1858= | |
| ENST00000481328.7:n.3224G>A | ||
| ENST00000605744.1:n.309G>A | ||
| NM_000260.3:c.5688G>A | NP_000251.3:p.Gln1896= | |
| NM_001127180.1:c.5574G>A | NP_001120652.1:p.Gln1858= | |
| XM_005274012.2:c.5571G>A | XP_005274069.1:p.Gln1857= | |
| XM_006718558.2:c.5679G>A | XP_006718621.1:p.Gln1893= | |
| XM_006718559.2:c.5574G>A | XP_006718622.1:p.Gln1858= | |
| XM_006718560.2:c.5571G>A | XP_006718623.1:p.Gln1857= | |
| XM_006718561.2:c.5574G>A | XP_006718624.1:p.Gln1858= | |
| XM_011545044.1:c.5688G>A | XP_011543346.1:p.Gln1896= | |
| XM_011545045.1:c.5682G>A | XP_011543347.1:p.Gln1894= | |
| XM_011545046.1:c.5655G>A | XP_011543348.1:p.Gln1885= | |
| XM_011545047.1:c.5592G>A | XP_011543349.1:p.Gln1864= | |
| XM_011545048.1:c.5463G>A | XP_011543350.1:p.Gln1821= | |
| XM_011545049.1:c.5451G>A | XP_011543351.1:p.Gln1817= | |
| XM_011545050.1:c.5424G>A | XP_011543352.1:p.Gln1808= | |
| XM_011545051.1:c.5688G>A | XP_011543353.1:p.Gln1896= | |
| XM_011545052.1:c.*53G>A | XP_011543354.1:n.*53G>A | |
| XR_949938.1:n.6008G>A | ||
| XR_949941.1:n.6008G>A | ||
| XM_011545044.2:c.5688G>A | XP_011543346.1:p.Gln1896= | |
| XM_011545046.2:c.5778G>A | XP_011543348.2:p.Gln1926= | |
| XM_011545050.2:c.5424G>A | XP_011543352.1:p.Gln1808= | |
| XM_017017778.1:c.5772G>A | XP_016873267.1:p.Gln1924= | |
| XM_017017779.1:c.5769G>A | XP_016873268.1:p.Gln1923= | |
| XM_017017780.1:c.5778G>A | XP_016873269.1:p.Gln1926= | |
| XM_017017781.1:c.5682G>A | XP_016873270.1:p.Gln1894= | |
| XM_017017782.1:c.5664G>A | XP_016873271.1:p.Gln1888= | |
| XM_017017783.1:c.5661G>A | XP_016873272.1:p.Gln1887= | |
| XM_017017784.1:c.5661G>A | XP_016873273.1:p.Gln1887= | |
| XM_017017785.1:c.5541G>A | XP_016873274.1:p.Gln1847= | |
| XM_017017786.1:c.5778G>A | XP_016873275.1:p.Gln1926= | |
| XM_017017788.1:c.5664G>A | XP_016873277.1:p.Gln1888= | |
| XR_001747885.1:n.5793G>A | ||
| XR_001747886.1:n.5708G>A | ||
| XR_001747887.1:n.5779G>A | ||
| NM_000260.4:c.5688G>A MANE Select | NP_000251.3:p.Gln1896= | |
| NM_001127180.2:c.5574G>A | NP_001120652.1:p.Gln1858= | |
| NM_001369365.1:c.5541G>A | NP_001356294.1:p.Gln1847= |