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
ClinVar Variation Id:
668419
dbSNP Id:
rs768237144
gnomAD v2:
16-2138524-G-A
gnomAD v3:
16-2088523-G-A
gnomAD v4:
16-2088523-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2088523G>A , CM000678.2:g.2088523G>A | GRCh38 |
| NC_000016.9:g.2138524G>A , CM000678.1:g.2138524G>A | GRCh37 |
| NC_000016.8:g.2078525G>A | NCBI36 |
| NG_005895.1:g.44218G>A , LRG_487:g.44218G>A | |
| NG_008617.1:g.54698C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*3686G>A | ENSP00000455997.2:n.*3686G>A | |
| ENST00000642206.2:c.5184G>A | ENSP00000495146.2:p.Gln1728= | |
| ENST00000642365.2:c.5334G>A | ENSP00000495459.2:p.Gln1778= | |
| ENST00000644417.2:c.*5850G>A | ENSP00000493912.2:n.*5850G>A | |
| ENST00000646464.2:c.*8086G>A | ENSP00000496610.2:n.*8086G>A | |
| ENST00000219476.9:c.5337G>A MANE Select | ENSP00000219476.3:p.Gln1779= | |
| ENST00000350773.9:c.5268G>A | ENSP00000344383.4:p.Gln1756= | |
| ENST00000401874.7:c.5136G>A | ENSP00000384468.2:p.Gln1712= | |
| ENST00000568454.6:c.5169G>A | ENSP00000454487.1:p.Gln1723= | |
| ENST00000569110.2:c.1560G>A | ||
| ENST00000569930.2:n.3219G>A | ||
| ENST00000642365.1:c.3991G>A | ||
| ENST00000642561.1:c.5196G>A | ENSP00000495099.1:p.Gln1732= | |
| ENST00000642791.1:n.934G>A | ||
| ENST00000642797.1:c.5139G>A | ENSP00000493846.1:p.Gln1713= | |
| ENST00000642936.1:c.5205G>A | ENSP00000494514.1:p.Gln1735= | |
| ENST00000643088.1:c.5130G>A | ENSP00000494747.1:p.Gln1710= | |
| ENST00000643426.1:n.2985G>A | ||
| ENST00000643946.1:c.5262G>A | ENSP00000495927.1:p.Gln1754= | |
| ENST00000644043.1:c.5208G>A | ENSP00000496262.1:p.Gln1736= | |
| ENST00000644329.1:c.5223G>A | ENSP00000496611.1:p.Gln1741= | |
| ENST00000644335.1:c.5133G>A | ENSP00000496317.1:p.Gln1711= | |
| ENST00000644399.1:c.5258G>A | ||
| ENST00000645024.1:n.3421G>A | ||
| ENST00000646388.1:c.5331G>A | ENSP00000495921.1:p.Gln1777= | |
| ENST00000646634.1:n.4152G>A | ||
| ENST00000646674.1:n.2589G>A | ||
| ENST00000647042.1:n.2560G>A | ||
| ENST00000647180.1:n.2450G>A | ||
| ENST00000219476.7:c.5337G>A | ENSP00000219476.3:p.Gln1779= | |
| ENST00000350773.8:c.5268G>A | ENSP00000344383.4:p.Gln1756= | |
| ENST00000382538.10:c.4992G>A | ENSP00000371978.6:p.Gln1664= | |
| ENST00000401874.6:c.5136G>A | ENSP00000384468.2:p.Gln1712= | |
| ENST00000439117.6:c.*4504G>A | ENSP00000406980.2:n.*4504G>A | |
| ENST00000439673.6:c.5028G>A | ENSP00000399232.2:p.Gln1676= | |
| ENST00000497886.5:n.3060G>A | ||
| ENST00000568454.5:c.5169G>A | ENSP00000454487.1:p.Gln1723= | |
| ENST00000569110.1:c.1519G>A | ||
| ENST00000569930.1:n.2452G>A | ||
| NM_000548.3:c.5337G>A , LRG_487t1:c.5337G>A | NP_000539.2:p.Gln1779= | |
| NM_001077183.1:c.5136G>A | NP_001070651.1:p.Gln1712= | |
| NM_001114382.1:c.5268G>A | NP_001107854.1:p.Gln1756= | |
| XM_005255529.3:c.5208G>A | XP_005255586.2:p.Gln1736= | |
| XM_005255531.3:c.5139G>A | XP_005255588.2:p.Gln1713= | |
| XM_011522636.1:c.5391G>A | XP_011520938.1:p.Gln1797= | |
| XM_011522637.1:c.5388G>A | XP_011520939.1:p.Gln1796= | |
| XM_011522638.1:c.5280G>A | XP_011520940.1:p.Gln1760= | |
| XM_011522639.1:c.5262G>A | XP_011520941.1:p.Gln1754= | |
| XM_011522640.1:c.5259G>A | XP_011520942.1:p.Gln1753= | |
| XM_011522641.1:c.5028G>A | XP_011520943.1:p.Gln1676= | |
| NM_000548.4:c.5337G>A | NP_000539.2:p.Gln1779= | |
| NM_001077183.2:c.5136G>A | NP_001070651.1:p.Gln1712= | |
| NM_001114382.2:c.5268G>A | NP_001107854.1:p.Gln1756= | |
| NM_001318827.1:c.5028G>A | NP_001305756.1:p.Gln1676= | |
| NM_001318829.1:c.4992G>A | NP_001305758.1:p.Gln1664= | |
| NM_001318831.1:c.4605G>A | NP_001305760.1:p.Gln1535= | |
| NM_001318832.1:c.5169G>A | NP_001305761.1:p.Gln1723= | |
| NM_001363528.1:c.5139G>A | NP_001350457.1:p.Gln1713= | |
| NM_021055.2:c.5208G>A | NP_066399.2:p.Gln1736= | |
| XM_005255531.4:c.5139G>A | XP_005255588.2:p.Gln1713= | |
| XM_011522636.2:c.5391G>A | XP_011520938.1:p.Gln1797= | |
| XM_011522637.2:c.5388G>A | XP_011520939.1:p.Gln1796= | |
| XM_011522638.2:c.5553G>A | XP_011520940.2:p.Gln1851= | |
| XM_011522639.2:c.5262G>A | XP_011520941.1:p.Gln1754= | |
| XM_011522640.2:c.5259G>A | XP_011520942.1:p.Gln1753= | |
| XM_017023615.1:c.5334G>A | XP_016879104.1:p.Gln1778= | |
| XM_017023616.1:c.5205G>A | XP_016879105.1:p.Gln1735= | |
| XM_017023617.1:c.5301G>A | XP_016879106.1:p.Gln1767= | |
| XM_017023618.1:c.4047G>A | XP_016879107.1:p.Gln1349= | |
| XM_024450413.1:c.5223G>A | XP_024306181.1:p.Gln1741= | |
| NM_000548.5:c.5337G>A MANE Select | NP_000539.2:p.Gln1779= | |
| NM_001370404.1:c.5205G>A | NP_001357333.1:p.Gln1735= | |
| NM_001370405.1:c.5196G>A | NP_001357334.1:p.Gln1732= | |
| NM_001077183.3:c.5136G>A | NP_001070651.1:p.Gln1712= | |
| NM_001114382.3:c.5268G>A | NP_001107854.1:p.Gln1756= | |
| NM_001318827.2:c.5028G>A | NP_001305756.1:p.Gln1676= | |
| NM_001318829.2:c.4992G>A | NP_001305758.1:p.Gln1664= | |
| NM_001318831.2:c.4605G>A | NP_001305760.1:p.Gln1535= | |
| NM_001318832.2:c.5169G>A | NP_001305761.1:p.Gln1723= | |
| NM_001363528.2:c.5139G>A | NP_001350457.1:p.Gln1713= | |
| NM_021055.3:c.5208G>A | NP_066399.2:p.Gln1736= |