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:
rs137854212
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2086830T>C , CM000678.2:g.2086830T>C | GRCh38 |
| NC_000016.9:g.2136831T>C , CM000678.1:g.2136831T>C | GRCh37 |
| NC_000016.8:g.2076832T>C | NCBI36 |
| NG_005895.1:g.42525T>C , LRG_487:g.42525T>C | |
| NG_008617.1:g.56391A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3297T>C | ENSP00000455997.2:n.*3297T>C | |
| ENST00000642206.2:c.4795T>C | ENSP00000495146.2:p.Tyr1599His | |
| ENST00000642365.2:c.4945T>C | ENSP00000495459.2:p.Tyr1649His | |
| ENST00000644417.2:c.*5461T>C | ENSP00000493912.2:n.*5461T>C | |
| ENST00000646464.2:c.*7697T>C | ENSP00000496610.2:n.*7697T>C | |
| ENST00000219476.9:c.4948T>C MANE Select | ENSP00000219476.3:p.Tyr1650His | |
| ENST00000350773.9:c.4879T>C | ENSP00000344383.4:p.Tyr1627His | |
| ENST00000401874.7:c.4747T>C | ENSP00000384468.2:p.Tyr1583His | |
| ENST00000568454.6:c.4780T>C | ENSP00000454487.1:p.Tyr1594His | |
| ENST00000569110.2:c.1171T>C | ||
| ENST00000569930.2:n.2830T>C | ||
| ENST00000642365.1:c.3602T>C | ||
| ENST00000642561.1:c.4819T>C | ENSP00000495099.1:p.Tyr1607His | |
| ENST00000642728.1:n.1130T>C | ||
| ENST00000642791.1:n.545T>C | ||
| ENST00000642797.1:c.4750T>C | ENSP00000493846.1:p.Tyr1584His | |
| ENST00000642936.1:c.4816T>C | ENSP00000494514.1:p.Tyr1606His | |
| ENST00000643088.1:c.4741T>C | ENSP00000494747.1:p.Tyr1581His | |
| ENST00000643177.1:n.962T>C | ||
| ENST00000643426.1:n.2596T>C | ||
| ENST00000643946.1:c.4873T>C | ENSP00000495927.1:p.Tyr1625His | |
| ENST00000644043.1:c.4819T>C | ENSP00000496262.1:p.Tyr1607His | |
| ENST00000644278.1:n.430T>C | ||
| ENST00000644329.1:c.4747T>C | ENSP00000496611.1:p.Tyr1583His | |
| ENST00000644335.1:c.4744T>C | ENSP00000496317.1:p.Tyr1582His | |
| ENST00000644399.1:c.4869T>C | ||
| ENST00000645024.1:n.3032T>C | ||
| ENST00000646388.1:c.4942T>C | ENSP00000495921.1:p.Tyr1648His | |
| ENST00000646557.1:n.109T>C | ||
| ENST00000646634.1:n.3763T>C | ||
| ENST00000646674.1:n.2200T>C | ||
| ENST00000647042.1:n.2171T>C | ||
| ENST00000647180.1:n.2061T>C | ||
| ENST00000219476.7:c.4948T>C | ENSP00000219476.3:p.Tyr1650His | |
| ENST00000350773.8:c.4879T>C | ENSP00000344383.4:p.Tyr1627His | |
| ENST00000382538.10:c.4603T>C | ENSP00000371978.6:p.Tyr1535His | |
| ENST00000401874.6:c.4747T>C | ENSP00000384468.2:p.Tyr1583His | |
| ENST00000439117.6:c.*4115T>C | ENSP00000406980.2:n.*4115T>C | |
| ENST00000439673.6:c.4639T>C | ENSP00000399232.2:p.Tyr1547His | |
| ENST00000497886.5:n.2671T>C | ||
| ENST00000568454.5:c.4780T>C | ENSP00000454487.1:p.Tyr1594His | |
| ENST00000569110.1:c.1130T>C | ||
| ENST00000569930.1:n.2063T>C | ||
| NM_000548.3:c.4948T>C , LRG_487t1:c.4948T>C | NP_000539.2:p.Tyr1650His | |
| NM_001077183.1:c.4747T>C | NP_001070651.1:p.Tyr1583His | |
| NM_001114382.1:c.4879T>C | NP_001107854.1:p.Tyr1627His | |
| XM_005255529.3:c.4819T>C | XP_005255586.2:p.Tyr1607His | |
| XM_005255531.3:c.4750T>C | XP_005255588.2:p.Tyr1584His | |
| XM_011522636.1:c.5002T>C | XP_011520938.1:p.Tyr1668His | |
| XM_011522637.1:c.4999T>C | XP_011520939.1:p.Tyr1667His | |
| XM_011522638.1:c.4891T>C | XP_011520940.1:p.Tyr1631His | |
| XM_011522639.1:c.4873T>C | XP_011520941.1:p.Tyr1625His | |
| XM_011522640.1:c.4870T>C | XP_011520942.1:p.Tyr1624His | |
| XM_011522641.1:c.4639T>C | XP_011520943.1:p.Tyr1547His | |
| NM_000548.4:c.4948T>C | NP_000539.2:p.Tyr1650His | |
| NM_001077183.2:c.4747T>C | NP_001070651.1:p.Tyr1583His | |
| NM_001114382.2:c.4879T>C | NP_001107854.1:p.Tyr1627His | |
| NM_001318827.1:c.4639T>C | NP_001305756.1:p.Tyr1547His | |
| NM_001318829.1:c.4603T>C | NP_001305758.1:p.Tyr1535His | |
| NM_001318831.1:c.4216T>C | NP_001305760.1:p.Tyr1406His | |
| NM_001318832.1:c.4780T>C | NP_001305761.1:p.Tyr1594His | |
| NM_001363528.1:c.4750T>C | NP_001350457.1:p.Tyr1584His | |
| NM_021055.2:c.4819T>C | NP_066399.2:p.Tyr1607His | |
| XM_005255531.4:c.4750T>C | XP_005255588.2:p.Tyr1584His | |
| XM_011522636.2:c.5002T>C | XP_011520938.1:p.Tyr1668His | |
| XM_011522637.2:c.4999T>C | XP_011520939.1:p.Tyr1667His | |
| XM_011522638.2:c.5164T>C | XP_011520940.2:p.Tyr1722His | |
| XM_011522639.2:c.4873T>C | XP_011520941.1:p.Tyr1625His | |
| XM_011522640.2:c.4870T>C | XP_011520942.1:p.Tyr1624His | |
| XM_017023615.1:c.4945T>C | XP_016879104.1:p.Tyr1649His | |
| XM_017023616.1:c.4816T>C | XP_016879105.1:p.Tyr1606His | |
| XM_017023617.1:c.4912T>C | XP_016879106.1:p.Tyr1638His | |
| XM_017023618.1:c.3658T>C | XP_016879107.1:p.Tyr1220His | |
| XM_024450413.1:c.4747T>C | XP_024306181.1:p.Tyr1583His | |
| NM_000548.5:c.4948T>C MANE Select | NP_000539.2:p.Tyr1650His | |
| NM_001370404.1:c.4816T>C | NP_001357333.1:p.Tyr1606His | |
| NM_001370405.1:c.4819T>C | NP_001357334.1:p.Tyr1607His | |
| NM_001077183.3:c.4747T>C | NP_001070651.1:p.Tyr1583His | |
| NM_001114382.3:c.4879T>C | NP_001107854.1:p.Tyr1627His | |
| NM_001318827.2:c.4639T>C | NP_001305756.1:p.Tyr1547His | |
| NM_001318829.2:c.4603T>C | NP_001305758.1:p.Tyr1535His | |
| NM_001318831.2:c.4216T>C | NP_001305760.1:p.Tyr1406His | |
| NM_001318832.2:c.4780T>C | NP_001305761.1:p.Tyr1594His | |
| NM_001363528.2:c.4750T>C | NP_001350457.1:p.Tyr1584His | |
| NM_021055.3:c.4819T>C | NP_066399.2:p.Tyr1607His |