Linked Data
ClinVar Variation Id:
373321
dbSNP Id:
rs765083332
ExAC:
11:76922381 G / A
gnomAD v2:
11-76922381-G-A
gnomAD v3:
11-77211336-G-A
gnomAD v4:
11-77211336-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77211336G>A , CM000673.2:g.77211336G>A | GRCh38 |
| NC_000011.9:g.76922381G>A , CM000673.1:g.76922381G>A | GRCh37 |
| NC_000011.8:g.76600029G>A | NCBI36 |
| NG_009086.1:g.88072G>A | |
| NG_009086.2:g.88091G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6236G>A MANE Select | ENSP00000386331.3:p.Arg2079Gln | |
| ENST00000670577.1:c.4037G>A | ||
| ENST00000409619.6:c.6089G>A | ENSP00000386635.2:p.Arg2030Gln | |
| ENST00000409709.7:c.6236G>A | ENSP00000386331.3:p.Arg2079Gln | |
| ENST00000458169.2:c.3662G>A | ENSP00000417017.2:p.Arg1221Gln | |
| ENST00000458637.6:c.6122G>A | ENSP00000392185.2:p.Arg2041Gln | |
| ENST00000481328.7:n.3772G>A | ||
| ENST00000526863.2:n.25+425G>A | ||
| ENST00000605744.1:n.1703G>A | ||
| NM_000260.3:c.6236G>A | NP_000251.3:p.Arg2079Gln | |
| NM_001127180.1:c.6122G>A | NP_001120652.1:p.Arg2041Gln | |
| XM_005274012.2:c.6119G>A | XP_005274069.1:p.Arg2040Gln | |
| XM_006718558.2:c.6227G>A | XP_006718621.1:p.Arg2076Gln | |
| XM_006718559.2:c.6122G>A | XP_006718622.1:p.Arg2041Gln | |
| XM_006718560.2:c.6119G>A | XP_006718623.1:p.Arg2040Gln | |
| XM_006718561.2:c.6122G>A | XP_006718624.1:p.Arg2041Gln | |
| XM_011545044.1:c.6236G>A | XP_011543346.1:p.Arg2079Gln | |
| XM_011545045.1:c.6230G>A | XP_011543347.1:p.Arg2077Gln | |
| XM_011545046.1:c.6203G>A | XP_011543348.1:p.Arg2068Gln | |
| XM_011545047.1:c.6140G>A | XP_011543349.1:p.Arg2047Gln | |
| XM_011545048.1:c.6011G>A | XP_011543350.1:p.Arg2004Gln | |
| XM_011545049.1:c.5999G>A | XP_011543351.1:p.Arg2000Gln | |
| XM_011545050.1:c.5972G>A | XP_011543352.1:p.Arg1991Gln | |
| XM_011545051.1:c.6236G>A | XP_011543353.1:p.Arg2079Gln | |
| XR_949938.1:n.6556G>A | ||
| XR_949941.1:n.6530G>A | ||
| XM_011545044.2:c.6236G>A | XP_011543346.1:p.Arg2079Gln | |
| XM_011545046.2:c.6326G>A | XP_011543348.2:p.Arg2109Gln | |
| XM_011545050.2:c.5972G>A | XP_011543352.1:p.Arg1991Gln | |
| XM_017017778.1:c.6320G>A | XP_016873267.1:p.Arg2107Gln | |
| XM_017017779.1:c.6317G>A | XP_016873268.1:p.Arg2106Gln | |
| XM_017017780.1:c.6326G>A | XP_016873269.1:p.Arg2109Gln | |
| XM_017017781.1:c.6230G>A | XP_016873270.1:p.Arg2077Gln | |
| XM_017017782.1:c.6212G>A | XP_016873271.1:p.Arg2071Gln | |
| XM_017017783.1:c.6209G>A | XP_016873272.1:p.Arg2070Gln | |
| XM_017017784.1:c.6209G>A | XP_016873273.1:p.Arg2070Gln | |
| XM_017017785.1:c.6089G>A | XP_016873274.1:p.Arg2030Gln | |
| XM_017017786.1:c.6326G>A | XP_016873275.1:p.Arg2109Gln | |
| XM_017017788.1:c.6212G>A | XP_016873277.1:p.Arg2071Gln | |
| XR_001747885.1:n.6315G>A | ||
| XR_001747887.1:n.6301G>A | ||
| NM_000260.4:c.6236G>A MANE Select | NP_000251.3:p.Arg2079Gln | |
| NM_001127180.2:c.6122G>A | NP_001120652.1:p.Arg2041Gln | |
| NM_001369365.1:c.6089G>A | NP_001356294.1:p.Arg2030Gln |