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:
rs1420725409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088126C>A , CM000678.2:g.2088126C>A | GRCh38 |
| NC_000016.9:g.2138127C>A , CM000678.1:g.2138127C>A | GRCh37 |
| NC_000016.8:g.2078128C>A | NCBI36 |
| NG_005895.1:g.43821C>A , LRG_487:g.43821C>A | |
| NG_008617.1:g.55095G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*3496C>A | ENSP00000455997.2:n.*3496C>A | |
| ENST00000642206.2:c.4994C>A | ENSP00000495146.2:p.Ala1665Asp | |
| ENST00000642365.2:c.5144C>A | ENSP00000495459.2:p.Ala1715Asp | |
| ENST00000644417.2:c.*5660C>A | ENSP00000493912.2:n.*5660C>A | |
| ENST00000646464.2:c.*7896C>A | ENSP00000496610.2:n.*7896C>A | |
| ENST00000219476.9:c.5147C>A MANE Select | ENSP00000219476.3:p.Ala1716Asp | |
| ENST00000350773.9:c.5078C>A | ENSP00000344383.4:p.Ala1693Asp | |
| ENST00000401874.7:c.4946C>A | ENSP00000384468.2:p.Ala1649Asp | |
| ENST00000568454.6:c.4979C>A | ENSP00000454487.1:p.Ala1660Asp | |
| ENST00000569110.2:c.1370C>A | ||
| ENST00000569930.2:n.3029C>A | ||
| ENST00000642365.1:c.3801C>A | ||
| ENST00000642561.1:c.5018C>A | ENSP00000495099.1:p.Ala1673Asp | |
| ENST00000642791.1:n.744C>A | ||
| ENST00000642797.1:c.4949C>A | ENSP00000493846.1:p.Ala1650Asp | |
| ENST00000642936.1:c.5015C>A | ENSP00000494514.1:p.Ala1672Asp | |
| ENST00000643088.1:c.4940C>A | ENSP00000494747.1:p.Ala1647Asp | |
| ENST00000643426.1:n.2795C>A | ||
| ENST00000643946.1:c.5072C>A | ENSP00000495927.1:p.Ala1691Asp | |
| ENST00000644043.1:c.5018C>A | ENSP00000496262.1:p.Ala1673Asp | |
| ENST00000644329.1:c.4946C>A | ENSP00000496611.1:p.Ala1649Asp | |
| ENST00000644335.1:c.4943C>A | ENSP00000496317.1:p.Ala1648Asp | |
| ENST00000644399.1:c.5068C>A | ||
| ENST00000645024.1:n.3231C>A | ||
| ENST00000646388.1:c.5141C>A | ENSP00000495921.1:p.Ala1714Asp | |
| ENST00000646634.1:n.3962C>A | ||
| ENST00000646674.1:n.2399C>A | ||
| ENST00000647042.1:n.2370C>A | ||
| ENST00000647180.1:n.2260C>A | ||
| ENST00000219476.7:c.5147C>A | ENSP00000219476.3:p.Ala1716Asp | |
| ENST00000350773.8:c.5078C>A | ENSP00000344383.4:p.Ala1693Asp | |
| ENST00000382538.10:c.4802C>A | ENSP00000371978.6:p.Ala1601Asp | |
| ENST00000401874.6:c.4946C>A | ENSP00000384468.2:p.Ala1649Asp | |
| ENST00000439117.6:c.*4314C>A | ENSP00000406980.2:n.*4314C>A | |
| ENST00000439673.6:c.4838C>A | ENSP00000399232.2:p.Ala1613Asp | |
| ENST00000497886.5:n.2870C>A | ||
| ENST00000568454.5:c.4979C>A | ENSP00000454487.1:p.Ala1660Asp | |
| ENST00000569110.1:c.1329C>A | ||
| ENST00000569930.1:n.2262C>A | ||
| NM_000548.3:c.5147C>A , LRG_487t1:c.5147C>A | NP_000539.2:p.Ala1716Asp | |
| NM_001077183.1:c.4946C>A | NP_001070651.1:p.Ala1649Asp | |
| NM_001114382.1:c.5078C>A | NP_001107854.1:p.Ala1693Asp | |
| XM_005255529.3:c.5018C>A | XP_005255586.2:p.Ala1673Asp | |
| XM_005255531.3:c.4949C>A | XP_005255588.2:p.Ala1650Asp | |
| XM_011522636.1:c.5201C>A | XP_011520938.1:p.Ala1734Asp | |
| XM_011522637.1:c.5198C>A | XP_011520939.1:p.Ala1733Asp | |
| XM_011522638.1:c.5090C>A | XP_011520940.1:p.Ala1697Asp | |
| XM_011522639.1:c.5072C>A | XP_011520941.1:p.Ala1691Asp | |
| XM_011522640.1:c.5069C>A | XP_011520942.1:p.Ala1690Asp | |
| XM_011522641.1:c.4838C>A | XP_011520943.1:p.Ala1613Asp | |
| NM_000548.4:c.5147C>A | NP_000539.2:p.Ala1716Asp | |
| NM_001077183.2:c.4946C>A | NP_001070651.1:p.Ala1649Asp | |
| NM_001114382.2:c.5078C>A | NP_001107854.1:p.Ala1693Asp | |
| NM_001318827.1:c.4838C>A | NP_001305756.1:p.Ala1613Asp | |
| NM_001318829.1:c.4802C>A | NP_001305758.1:p.Ala1601Asp | |
| NM_001318831.1:c.4415C>A | NP_001305760.1:p.Ala1472Asp | |
| NM_001318832.1:c.4979C>A | NP_001305761.1:p.Ala1660Asp | |
| NM_001363528.1:c.4949C>A | NP_001350457.1:p.Ala1650Asp | |
| NM_021055.2:c.5018C>A | NP_066399.2:p.Ala1673Asp | |
| XM_005255531.4:c.4949C>A | XP_005255588.2:p.Ala1650Asp | |
| XM_011522636.2:c.5201C>A | XP_011520938.1:p.Ala1734Asp | |
| XM_011522637.2:c.5198C>A | XP_011520939.1:p.Ala1733Asp | |
| XM_011522638.2:c.5363C>A | XP_011520940.2:p.Ala1788Asp | |
| XM_011522639.2:c.5072C>A | XP_011520941.1:p.Ala1691Asp | |
| XM_011522640.2:c.5069C>A | XP_011520942.1:p.Ala1690Asp | |
| XM_017023615.1:c.5144C>A | XP_016879104.1:p.Ala1715Asp | |
| XM_017023616.1:c.5015C>A | XP_016879105.1:p.Ala1672Asp | |
| XM_017023617.1:c.5111C>A | XP_016879106.1:p.Ala1704Asp | |
| XM_017023618.1:c.3857C>A | XP_016879107.1:p.Ala1286Asp | |
| XM_024450413.1:c.4946C>A | XP_024306181.1:p.Ala1649Asp | |
| NM_000548.5:c.5147C>A MANE Select | NP_000539.2:p.Ala1716Asp | |
| NM_001370404.1:c.5015C>A | NP_001357333.1:p.Ala1672Asp | |
| NM_001370405.1:c.5018C>A | NP_001357334.1:p.Ala1673Asp | |
| NM_001077183.3:c.4946C>A | NP_001070651.1:p.Ala1649Asp | |
| NM_001114382.3:c.5078C>A | NP_001107854.1:p.Ala1693Asp | |
| NM_001318827.2:c.4838C>A | NP_001305756.1:p.Ala1613Asp | |
| NM_001318829.2:c.4802C>A | NP_001305758.1:p.Ala1601Asp | |
| NM_001318831.2:c.4415C>A | NP_001305760.1:p.Ala1472Asp | |
| NM_001318832.2:c.4979C>A | NP_001305761.1:p.Ala1660Asp | |
| NM_001363528.2:c.4949C>A | NP_001350457.1:p.Ala1650Asp | |
| NM_021055.3:c.5018C>A | NP_066399.2:p.Ala1673Asp |