UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs2085655247
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2055418G>C , CM000678.2:g.2055418G>C | GRCh38 |
| NC_000016.9:g.2105419G>C , CM000678.1:g.2105419G>C | GRCh37 |
| NC_000016.8:g.2045420G>C | NCBI36 |
| NG_005895.1:g.11113G>C , LRG_487:g.11113G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.498G>C | ENSP00000455997.2:p.Gln166His | |
| ENST00000642206.2:c.543G>C | ENSP00000495146.2:p.Gln181His | |
| ENST00000642365.2:c.498G>C | ENSP00000495459.2:p.Gln166His | |
| ENST00000644417.2:c.482-1G>C | ENSP00000493912.2:n.482-1G>C | |
| ENST00000646464.2:c.226-562G>C | ENSP00000496610.2:n.226-562G>C | |
| ENST00000219476.9:c.498G>C MANE Select | ENSP00000219476.3:p.Gln166His | |
| ENST00000350773.9:c.498G>C | ENSP00000344383.4:p.Gln166His | |
| ENST00000401874.7:c.498G>C | ENSP00000384468.2:p.Gln166His | |
| ENST00000432909.3:c.272G>C | ||
| ENST00000461648.3:n.2412G>C | ||
| ENST00000568454.6:c.531G>C | ENSP00000454487.1:p.Gln177His | |
| ENST00000568692.2:n.1221G>C | ||
| ENST00000642561.1:c.498G>C | ENSP00000495099.1:p.Gln166His | |
| ENST00000642797.1:c.498G>C | ENSP00000493846.1:p.Gln166His | |
| ENST00000642812.1:n.555G>C | ||
| ENST00000642936.1:c.498G>C | ENSP00000494514.1:p.Gln166His | |
| ENST00000643088.1:c.498G>C | ENSP00000494747.1:p.Gln166His | |
| ENST00000643120.1:n.523-1G>C | ||
| ENST00000643149.1:n.1451G>C | ||
| ENST00000643298.1:c.498G>C | ENSP00000494393.1:p.Gln166His | |
| ENST00000643745.1:c.498G>C | ENSP00000495948.1:p.Gln166His | |
| ENST00000643946.1:c.498G>C | ENSP00000495927.1:p.Gln166His | |
| ENST00000644043.1:c.498G>C | ENSP00000496262.1:p.Gln166His | |
| ENST00000644135.1:c.498G>C | ENSP00000495644.1:p.Gln166His | |
| ENST00000644222.1:n.585G>C | ||
| ENST00000644329.1:c.498G>C | ENSP00000496611.1:p.Gln166His | |
| ENST00000644335.1:c.498G>C | ENSP00000496317.1:p.Gln166His | |
| ENST00000644399.1:c.491G>C | ||
| ENST00000644417.1:c.197-1G>C | ENSP00000493912.1:n.197-1G>C | |
| ENST00000644665.1:n.615G>C | ||
| ENST00000645591.1:n.1469G>C | ||
| ENST00000646388.1:c.498G>C | ENSP00000495921.1:p.Gln166His | |
| ENST00000646823.1:n.886G>C | ||
| ENST00000647234.1:n.1200-1G>C | ||
| ENST00000647242.1:n.1166G>C | ||
| ENST00000219476.7:c.498G>C | ENSP00000219476.3:p.Gln166His | |
| ENST00000350773.8:c.498G>C | ENSP00000344383.4:p.Gln166His | |
| ENST00000382538.10:c.351G>C | ENSP00000371978.6:p.Gln117His | |
| ENST00000401874.6:c.498G>C | ENSP00000384468.2:p.Gln166His | |
| ENST00000432909.2:c.272G>C | ||
| ENST00000439117.6:c.226-778G>C | ENSP00000406980.2:n.226-778G>C | |
| ENST00000439673.6:c.387G>C | ENSP00000399232.2:p.Gln129His | |
| ENST00000568454.5:c.531G>C | ENSP00000454487.1:p.Gln177His | |
| ENST00000568692.1:n.162G>C | ||
| NM_000548.3:c.498G>C , LRG_487t1:c.498G>C | NP_000539.2:p.Gln166His | |
| NM_001077183.1:c.498G>C | NP_001070651.1:p.Gln166His | |
| NM_001114382.1:c.498G>C | NP_001107854.1:p.Gln166His | |
| XM_005255529.3:c.498G>C | XP_005255586.2:p.Gln166His | |
| XM_005255531.3:c.498G>C | XP_005255588.2:p.Gln166His | |
| XM_011522636.1:c.498G>C | XP_011520938.1:p.Gln166His | |
| XM_011522637.1:c.498G>C | XP_011520939.1:p.Gln166His | |
| XM_011522638.1:c.387G>C | XP_011520940.1:p.Gln129His | |
| XM_011522639.1:c.498G>C | XP_011520941.1:p.Gln166His | |
| XM_011522640.1:c.498G>C | XP_011520942.1:p.Gln166His | |
| XM_011522641.1:c.387G>C | XP_011520943.1:p.Gln129His | |
| NM_000548.4:c.498G>C | NP_000539.2:p.Gln166His | |
| NM_001077183.2:c.498G>C | NP_001070651.1:p.Gln166His | |
| NM_001114382.2:c.498G>C | NP_001107854.1:p.Gln166His | |
| NM_001318827.1:c.387G>C | NP_001305756.1:p.Gln129His | |
| NM_001318829.1:c.351G>C | NP_001305758.1:p.Gln117His | |
| NM_001318831.1:c.-1-778G>C | NP_001305760.1:n.-1-778G>C | |
| NM_001318832.1:c.531G>C | NP_001305761.1:p.Gln177His | |
| NM_001363528.1:c.498G>C | NP_001350457.1:p.Gln166His | |
| NM_021055.2:c.498G>C | NP_066399.2:p.Gln166His | |
| XM_005255531.4:c.498G>C | XP_005255588.2:p.Gln166His | |
| XM_011522636.2:c.498G>C | XP_011520938.1:p.Gln166His | |
| XM_011522637.2:c.498G>C | XP_011520939.1:p.Gln166His | |
| XM_011522638.2:c.660G>C | XP_011520940.2:p.Gln220His | |
| XM_011522639.2:c.498G>C | XP_011520941.1:p.Gln166His | |
| XM_011522640.2:c.498G>C | XP_011520942.1:p.Gln166His | |
| XM_017023615.1:c.498G>C | XP_016879104.1:p.Gln166His | |
| XM_017023616.1:c.498G>C | XP_016879105.1:p.Gln166His | |
| XM_017023617.1:c.660G>C | XP_016879106.1:p.Gln220His | |
| XM_017023618.1:c.-934G>C | XP_016879107.1:n.-934G>C | |
| XM_024450413.1:c.498G>C | XP_024306181.1:p.Gln166His | |
| NM_000548.5:c.498G>C MANE Select | NP_000539.2:p.Gln166His | |
| NM_001370404.1:c.498G>C | NP_001357333.1:p.Gln166His | |
| NM_001370405.1:c.498G>C | NP_001357334.1:p.Gln166His | |
| NM_001077183.3:c.498G>C | NP_001070651.1:p.Gln166His | |
| NM_001114382.3:c.498G>C | NP_001107854.1:p.Gln166His | |
| NM_001318827.2:c.387G>C | NP_001305756.1:p.Gln129His | |
| NM_001318829.2:c.351G>C | NP_001305758.1:p.Gln117His | |
| NM_001318831.2:c.-1-778G>C | NP_001305760.1:n.-1-778G>C | |
| NM_001318832.2:c.531G>C | NP_001305761.1:p.Gln177His | |
| NM_001363528.2:c.498G>C | NP_001350457.1:p.Gln166His | |
| NM_021055.3:c.498G>C | NP_066399.2:p.Gln166His |