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:
954178
ClinVar RCV Id:
RCV001226591
dbSNP Id:
rs2090482288
gnomAD v4:
16-2084253-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2084253A>G , CM000678.2:g.2084253A>G | GRCh38 |
| NC_000016.9:g.2134254A>G , CM000678.1:g.2134254A>G | GRCh37 |
| NC_000016.8:g.2074255A>G | NCBI36 |
| NG_005895.1:g.39948A>G , LRG_487:g.39948A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000568566.6:c.*2380A>G | ENSP00000455997.2:n.*2380A>G | |
| ENST00000642206.2:c.3878A>G | ENSP00000495146.2:p.Glu1293Gly | |
| ENST00000642365.2:c.4028A>G | ENSP00000495459.2:p.Glu1343Gly | |
| ENST00000644417.2:c.*4411A>G | ENSP00000493912.2:n.*4411A>G | |
| ENST00000646464.2:c.*6780A>G | ENSP00000496610.2:n.*6780A>G | |
| ENST00000219476.9:c.4031A>G MANE Select | ENSP00000219476.3:p.Glu1344Gly | |
| ENST00000350773.9:c.3962A>G | ENSP00000344383.4:p.Glu1321Gly | |
| ENST00000401874.7:c.3830A>G | ENSP00000384468.2:p.Glu1277Gly | |
| ENST00000568454.6:c.3863A>G | ENSP00000454487.1:p.Glu1288Gly | |
| ENST00000569110.2:c.267A>G | ||
| ENST00000569930.2:n.1913A>G | ||
| ENST00000642365.1:c.2685A>G | ||
| ENST00000642561.1:c.3902A>G | ENSP00000495099.1:p.Glu1301Gly | |
| ENST00000642728.1:n.213A>G | ||
| ENST00000642797.1:c.3833A>G | ENSP00000493846.1:p.Glu1278Gly | |
| ENST00000642936.1:c.3899A>G | ENSP00000494514.1:p.Glu1300Gly | |
| ENST00000643088.1:c.3830A>G | ENSP00000494747.1:p.Glu1277Gly | |
| ENST00000643177.1:n.45A>G | ||
| ENST00000643426.1:n.1679A>G | ||
| ENST00000643533.1:n.472A>G | ||
| ENST00000643946.1:c.3962A>G | ENSP00000495927.1:p.Glu1321Gly | |
| ENST00000644043.1:c.3902A>G | ENSP00000496262.1:p.Glu1301Gly | |
| ENST00000644329.1:c.3830A>G | ENSP00000496611.1:p.Glu1277Gly | |
| ENST00000644335.1:c.3833A>G | ENSP00000496317.1:p.Glu1278Gly | |
| ENST00000644399.1:c.3952A>G | ||
| ENST00000645024.1:n.2115A>G | ||
| ENST00000645186.1:c.274A>G | ||
| ENST00000646388.1:c.4031A>G | ENSP00000495921.1:p.Glu1344Gly | |
| ENST00000646634.1:n.2846A>G | ||
| ENST00000646674.1:n.1283A>G | ||
| ENST00000647042.1:n.1254A>G | ||
| ENST00000647180.1:n.1144A>G | ||
| ENST00000219476.7:c.4031A>G | ENSP00000219476.3:p.Glu1344Gly | |
| ENST00000350773.8:c.3962A>G | ENSP00000344383.4:p.Glu1321Gly | |
| ENST00000382538.10:c.3686A>G | ENSP00000371978.6:p.Glu1229Gly | |
| ENST00000401874.6:c.3830A>G | ENSP00000384468.2:p.Glu1277Gly | |
| ENST00000439117.6:c.*3198A>G | ENSP00000406980.2:n.*3198A>G | |
| ENST00000439673.6:c.3722A>G | ENSP00000399232.2:p.Glu1241Gly | |
| ENST00000497886.5:n.1789A>G | ||
| ENST00000568454.5:c.3863A>G | ENSP00000454487.1:p.Glu1288Gly | |
| ENST00000569110.1:c.213A>G | ||
| ENST00000569930.1:n.1146A>G | ||
| NM_000548.3:c.4031A>G , LRG_487t1:c.4031A>G | NP_000539.2:p.Glu1344Gly | |
| NM_001077183.1:c.3830A>G | NP_001070651.1:p.Glu1277Gly | |
| NM_001114382.1:c.3962A>G | NP_001107854.1:p.Glu1321Gly | |
| XM_005255529.3:c.3902A>G | XP_005255586.2:p.Glu1301Gly | |
| XM_005255531.3:c.3833A>G | XP_005255588.2:p.Glu1278Gly | |
| XM_011522636.1:c.4085A>G | XP_011520938.1:p.Glu1362Gly | |
| XM_011522637.1:c.4082A>G | XP_011520939.1:p.Glu1361Gly | |
| XM_011522638.1:c.3974A>G | XP_011520940.1:p.Glu1325Gly | |
| XM_011522639.1:c.3956A>G | XP_011520941.1:p.Glu1319Gly | |
| XM_011522640.1:c.3953A>G | XP_011520942.1:p.Glu1318Gly | |
| XM_011522641.1:c.3722A>G | XP_011520943.1:p.Glu1241Gly | |
| NM_000548.4:c.4031A>G | NP_000539.2:p.Glu1344Gly | |
| NM_001077183.2:c.3830A>G | NP_001070651.1:p.Glu1277Gly | |
| NM_001114382.2:c.3962A>G | NP_001107854.1:p.Glu1321Gly | |
| NM_001318827.1:c.3722A>G | NP_001305756.1:p.Glu1241Gly | |
| NM_001318829.1:c.3686A>G | NP_001305758.1:p.Glu1229Gly | |
| NM_001318831.1:c.3299A>G | NP_001305760.1:p.Glu1100Gly | |
| NM_001318832.1:c.3863A>G | NP_001305761.1:p.Glu1288Gly | |
| NM_001363528.1:c.3833A>G | NP_001350457.1:p.Glu1278Gly | |
| NM_021055.2:c.3902A>G | NP_066399.2:p.Glu1301Gly | |
| XM_005255531.4:c.3833A>G | XP_005255588.2:p.Glu1278Gly | |
| XM_011522636.2:c.4085A>G | XP_011520938.1:p.Glu1362Gly | |
| XM_011522637.2:c.4082A>G | XP_011520939.1:p.Glu1361Gly | |
| XM_011522638.2:c.4247A>G | XP_011520940.2:p.Glu1416Gly | |
| XM_011522639.2:c.3956A>G | XP_011520941.1:p.Glu1319Gly | |
| XM_011522640.2:c.3953A>G | XP_011520942.1:p.Glu1318Gly | |
| XM_017023615.1:c.4028A>G | XP_016879104.1:p.Glu1343Gly | |
| XM_017023616.1:c.3899A>G | XP_016879105.1:p.Glu1300Gly | |
| XM_017023617.1:c.3995A>G | XP_016879106.1:p.Glu1332Gly | |
| XM_017023618.1:c.2741A>G | XP_016879107.1:p.Glu914Gly | |
| XM_024450413.1:c.3830A>G | XP_024306181.1:p.Glu1277Gly | |
| NM_000548.5:c.4031A>G MANE Select | NP_000539.2:p.Glu1344Gly | |
| NM_001370404.1:c.3899A>G | NP_001357333.1:p.Glu1300Gly | |
| NM_001370405.1:c.3902A>G | NP_001357334.1:p.Glu1301Gly | |
| NM_001077183.3:c.3830A>G | NP_001070651.1:p.Glu1277Gly | |
| NM_001114382.3:c.3962A>G | NP_001107854.1:p.Glu1321Gly | |
| NM_001318827.2:c.3722A>G | NP_001305756.1:p.Glu1241Gly | |
| NM_001318829.2:c.3686A>G | NP_001305758.1:p.Glu1229Gly | |
| NM_001318831.2:c.3299A>G | NP_001305760.1:p.Glu1100Gly | |
| NM_001318832.2:c.3863A>G | NP_001305761.1:p.Glu1288Gly | |
| NM_001363528.2:c.3833A>G | NP_001350457.1:p.Glu1278Gly | |
| NM_021055.3:c.3902A>G | NP_066399.2:p.Glu1301Gly |