Linked Data
ClinVar Variation Id:
1472621
ClinVar RCV Id:
RCV001969320
dbSNP Id:
rs45517273
gnomAD v4:
16-2077613-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2077613A>C , CM000678.2:g.2077613A>C | GRCh38 |
| NC_000016.9:g.2127614A>C , CM000678.1:g.2127614A>C | GRCh37 |
| NC_000016.8:g.2067615A>C | NCBI36 |
| NG_005895.1:g.33308A>C , LRG_487:g.33308A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*1384+1028A>C | ENSP00000455997.2:n.*1384+1028A>C | |
| ENST00000642206.2:c.2882+1028A>C | ENSP00000495146.2:n.2882+1028A>C | |
| ENST00000642365.2:c.2853A>C | ENSP00000495459.2:p.Arg951Ser | |
| ENST00000644417.2:c.*3302A>C | ENSP00000493912.2:n.*3302A>C | |
| ENST00000646464.2:c.*3891+1028A>C | ENSP00000496610.2:n.*3891+1028A>C | |
| ENST00000219476.9:c.2853A>C MANE Select | ENSP00000219476.3:p.Arg951Ser | |
| ENST00000350773.9:c.2853A>C | ENSP00000344383.4:p.Arg951Ser | |
| ENST00000401874.7:c.2837+1028A>C | ENSP00000384468.2:n.2837+1028A>C | |
| ENST00000471143.6:c.197+1028A>C | ENSP00000458541.2:n.197+1028A>C | |
| ENST00000568366.6:n.210A>C | ||
| ENST00000568454.6:c.2870+1028A>C | ENSP00000454487.1:n.2870+1028A>C | |
| ENST00000642365.1:c.1510A>C | ||
| ENST00000642561.1:c.2837+1028A>C | ENSP00000495099.1:n.2837+1028A>C | |
| ENST00000642797.1:c.2837+1028A>C | ENSP00000493846.1:n.2837+1028A>C | |
| ENST00000642936.1:c.2837+1028A>C | ENSP00000494514.1:n.2837+1028A>C | |
| ENST00000643088.1:c.2837+1028A>C | ENSP00000494747.1:n.2837+1028A>C | |
| ENST00000643946.1:c.2853A>C | ENSP00000495927.1:p.Arg951Ser | |
| ENST00000644043.1:c.2837+1028A>C | ENSP00000496262.1:n.2837+1028A>C | |
| ENST00000644329.1:c.2837+1028A>C | ENSP00000496611.1:n.2837+1028A>C | |
| ENST00000644335.1:c.2837+1028A>C | ENSP00000496317.1:n.2837+1028A>C | |
| ENST00000644399.1:c.2846A>C | ||
| ENST00000645024.1:n.1119+1028A>C | ||
| ENST00000646388.1:c.2853A>C | ENSP00000495921.1:p.Arg951Ser | |
| ENST00000646634.1:n.1850+1028A>C | ||
| ENST00000219476.7:c.2853A>C | ENSP00000219476.3:p.Arg951Ser | |
| ENST00000350773.8:c.2853A>C | ENSP00000344383.4:p.Arg951Ser | |
| ENST00000382538.10:c.2690+1028A>C | ENSP00000371978.6:n.2690+1028A>C | |
| ENST00000401874.6:c.2837+1028A>C | ENSP00000384468.2:n.2837+1028A>C | |
| ENST00000439117.6:c.*2136+1028A>C | ENSP00000406980.2:n.*2136+1028A>C | |
| ENST00000439673.6:c.2726+1028A>C | ENSP00000399232.2:n.2726+1028A>C | |
| ENST00000471143.5:c.195+1028A>C | ||
| ENST00000483020.5:c.206+1028A>C | ENSP00000460310.1:n.206+1028A>C | |
| ENST00000568366.5:n.210A>C | ||
| ENST00000568454.5:c.2870+1028A>C | ENSP00000454487.1:n.2870+1028A>C | |
| NM_000548.3:c.2853A>C , LRG_487t1:c.2853A>C | NP_000539.2:p.Arg951Ser | |
| NM_001077183.1:c.2837+1028A>C | NP_001070651.1:n.2837+1028A>C | |
| NM_001114382.1:c.2853A>C | NP_001107854.1:p.Arg951Ser | |
| XM_005255529.3:c.2837+1028A>C | XP_005255586.2:n.2837+1028A>C | |
| XM_005255531.3:c.2837+1028A>C | XP_005255588.2:n.2837+1028A>C | |
| XM_011522636.1:c.2853A>C | XP_011520938.1:p.Arg951Ser | |
| XM_011522637.1:c.2853A>C | XP_011520939.1:p.Arg951Ser | |
| XM_011522638.1:c.2742A>C | XP_011520940.1:p.Arg914Ser | |
| XM_011522639.1:c.2837+1028A>C | XP_011520941.1:n.2837+1028A>C | |
| XM_011522640.1:c.2837+1028A>C | XP_011520942.1:n.2837+1028A>C | |
| XM_011522641.1:c.2726+1028A>C | XP_011520943.1:n.2726+1028A>C | |
| NM_000548.4:c.2853A>C | NP_000539.2:p.Arg951Ser | |
| NM_001077183.2:c.2837+1028A>C | NP_001070651.1:n.2837+1028A>C | |
| NM_001114382.2:c.2853A>C | NP_001107854.1:p.Arg951Ser | |
| NM_001318827.1:c.2726+1028A>C | NP_001305756.1:n.2726+1028A>C | |
| NM_001318829.1:c.2690+1028A>C | NP_001305758.1:n.2690+1028A>C | |
| NM_001318831.1:c.2237+1028A>C | NP_001305760.1:n.2237+1028A>C | |
| NM_001318832.1:c.2870+1028A>C | NP_001305761.1:n.2870+1028A>C | |
| NM_001363528.1:c.2837+1028A>C | NP_001350457.1:n.2837+1028A>C | |
| NM_021055.2:c.2837+1028A>C | NP_066399.2:n.2837+1028A>C | |
| XM_005255531.4:c.2837+1028A>C | XP_005255588.2:n.2837+1028A>C | |
| XM_011522636.2:c.2853A>C | XP_011520938.1:p.Arg951Ser | |
| XM_011522637.2:c.2853A>C | XP_011520939.1:p.Arg951Ser | |
| XM_011522638.2:c.3015A>C | XP_011520940.2:p.Arg1005Ser | |
| XM_011522639.2:c.2837+1028A>C | XP_011520941.1:n.2837+1028A>C | |
| XM_011522640.2:c.2837+1028A>C | XP_011520942.1:n.2837+1028A>C | |
| XM_017023615.1:c.2853A>C | XP_016879104.1:p.Arg951Ser | |
| XM_017023616.1:c.2837+1028A>C | XP_016879105.1:n.2837+1028A>C | |
| XM_017023617.1:c.2999+1028A>C | XP_016879106.1:n.2999+1028A>C | |
| XM_017023618.1:c.1509A>C | XP_016879107.1:p.Arg503Ser | |
| XM_024450413.1:c.2837+1028A>C | XP_024306181.1:n.2837+1028A>C | |
| NM_000548.5:c.2853A>C MANE Select | NP_000539.2:p.Arg951Ser | |
| NM_001370404.1:c.2837+1028A>C | NP_001357333.1:n.2837+1028A>C | |
| NM_001370405.1:c.2837+1028A>C | NP_001357334.1:n.2837+1028A>C | |
| NM_001077183.3:c.2837+1028A>C | NP_001070651.1:n.2837+1028A>C | |
| NM_001114382.3:c.2853A>C | NP_001107854.1:p.Arg951Ser | |
| NM_001318827.2:c.2726+1028A>C | NP_001305756.1:n.2726+1028A>C | |
| NM_001318829.2:c.2690+1028A>C | NP_001305758.1:n.2690+1028A>C | |
| NM_001318831.2:c.2237+1028A>C | NP_001305760.1:n.2237+1028A>C | |
| NM_001318832.2:c.2870+1028A>C | NP_001305761.1:n.2870+1028A>C | |
| NM_001363528.2:c.2837+1028A>C | NP_001350457.1:n.2837+1028A>C | |
| NM_021055.3:c.2837+1028A>C | NP_066399.2:n.2837+1028A>C |