Linked Data
ClinVar Variation Id:
43292
dbSNP Id:
rs397516322
ExAC:
11:76916644 G / A
gnomAD v2:
11-76916644-G-A
gnomAD v3:
11-77205599-G-A
gnomAD v4:
11-77205599-G-A
PubMed:
PMID:16963483
ERepo:
CA278687/MONDO:0019501/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77205599G>A , CM000673.2:g.77205599G>A | GRCh38 |
| NC_000011.9:g.76916644G>A , CM000673.1:g.76916644G>A | GRCh37 |
| NC_000011.8:g.76594292G>A | NCBI36 |
| NG_009086.1:g.82335G>A | |
| NG_009086.2:g.82354G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.5618G>A MANE Select | ENSP00000386331.3:p.Arg1873Gln | |
| ENST00000670577.1:c.3445G>A | ||
| ENST00000409619.6:c.5471G>A | ENSP00000386635.2:p.Arg1824Gln | |
| ENST00000409709.7:c.5618G>A | ENSP00000386331.3:p.Arg1873Gln | |
| ENST00000458169.2:c.3044G>A | ENSP00000417017.2:p.Arg1015Gln | |
| ENST00000458637.6:c.5504G>A | ENSP00000392185.2:p.Arg1835Gln | |
| ENST00000481328.7:n.3154G>A | ||
| ENST00000605744.1:n.239G>A | ||
| NM_000260.3:c.5618G>A | NP_000251.3:p.Arg1873Gln | |
| NM_001127180.1:c.5504G>A | NP_001120652.1:p.Arg1835Gln | |
| XM_005274012.2:c.5501G>A | XP_005274069.1:p.Arg1834Gln | |
| XM_006718558.2:c.5609G>A | XP_006718621.1:p.Arg1870Gln | |
| XM_006718559.2:c.5504G>A | XP_006718622.1:p.Arg1835Gln | |
| XM_006718560.2:c.5501G>A | XP_006718623.1:p.Arg1834Gln | |
| XM_006718561.2:c.5504G>A | XP_006718624.1:p.Arg1835Gln | |
| XM_011545044.1:c.5618G>A | XP_011543346.1:p.Arg1873Gln | |
| XM_011545045.1:c.5612G>A | XP_011543347.1:p.Arg1871Gln | |
| XM_011545046.1:c.5585G>A | XP_011543348.1:p.Arg1862Gln | |
| XM_011545047.1:c.5522G>A | XP_011543349.1:p.Arg1841Gln | |
| XM_011545048.1:c.5393G>A | XP_011543350.1:p.Arg1798Gln | |
| XM_011545049.1:c.5381G>A | XP_011543351.1:p.Arg1794Gln | |
| XM_011545050.1:c.5354G>A | XP_011543352.1:p.Arg1785Gln | |
| XM_011545051.1:c.5618G>A | XP_011543353.1:p.Arg1873Gln | |
| XM_011545052.1:c.5533G>A | XP_011543354.1:p.Gly1845Ser | |
| XR_949938.1:n.5938G>A | ||
| XR_949941.1:n.5938G>A | ||
| XR_949942.1:n.5841G>A | ||
| XM_011545044.2:c.5618G>A | XP_011543346.1:p.Arg1873Gln | |
| XM_011545046.2:c.5708G>A | XP_011543348.2:p.Arg1903Gln | |
| XM_011545050.2:c.5354G>A | XP_011543352.1:p.Arg1785Gln | |
| XM_017017778.1:c.5702G>A | XP_016873267.1:p.Arg1901Gln | |
| XM_017017779.1:c.5699G>A | XP_016873268.1:p.Arg1900Gln | |
| XM_017017780.1:c.5708G>A | XP_016873269.1:p.Arg1903Gln | |
| XM_017017781.1:c.5612G>A | XP_016873270.1:p.Arg1871Gln | |
| XM_017017782.1:c.5594G>A | XP_016873271.1:p.Arg1865Gln | |
| XM_017017783.1:c.5591G>A | XP_016873272.1:p.Arg1864Gln | |
| XM_017017784.1:c.5591G>A | XP_016873273.1:p.Arg1864Gln | |
| XM_017017785.1:c.5471G>A | XP_016873274.1:p.Arg1824Gln | |
| XM_017017786.1:c.5708G>A | XP_016873275.1:p.Arg1903Gln | |
| XM_017017788.1:c.5594G>A | XP_016873277.1:p.Arg1865Gln | |
| XR_001747885.1:n.5723G>A | ||
| XR_001747886.1:n.5638G>A | ||
| XR_001747887.1:n.5709G>A | ||
| XR_001747888.1:n.5624G>A | ||
| NM_000260.4:c.5618G>A MANE Select | NP_000251.3:p.Arg1873Gln | |
| NM_001127180.2:c.5504G>A | NP_001120652.1:p.Arg1835Gln | |
| NM_001369365.1:c.5471G>A | NP_001356294.1:p.Arg1824Gln |