Linked Data
ClinVar Variation Id:
2683230
ClinVar RCV Id:
RCV003482097
dbSNP Id:
rs1957038246
gnomAD v4:
13-51937478-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937478T>C , CM000675.2:g.51937478T>C | GRCh38 |
| NC_000013.10:g.52511614T>C , CM000675.1:g.52511614T>C | GRCh37 |
| NC_000013.9:g.51409615T>C | NCBI36 |
| NG_008806.1:g.79017A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1551A>G | ENSP00000489512.2:n.*1551A>G | |
| ENST00000673864.2:c.*2645A>G | ENSP00000501045.2:n.*2645A>G | |
| ENST00000674147.2:c.3280A>G | ENSP00000500964.2:p.Arg1094Gly | |
| ENST00000242839.10:c.3901A>G MANE Select | ENSP00000242839.5:p.Arg1301Gly | |
| ENST00000344297.9:c.3280A>G | ENSP00000342559.5:p.Arg1094Gly | |
| ENST00000400366.6:c.3568A>G | ENSP00000383217.3:p.Arg1190Gly | |
| ENST00000448424.7:c.3649A>G | ENSP00000416738.3:p.Arg1217Gly | |
| ENST00000673696.1:n.1142A>G | ||
| ENST00000673772.1:c.3667A>G | ENSP00000501168.1:p.Arg1223Gly | |
| ENST00000673867.1:n.4040A>G | ||
| ENST00000673923.1:n.767A>G | ||
| ENST00000674147.1:c.2836A>G | ENSP00000500964.1:p.Arg946Gly | |
| ENST00000242839.8:c.3901A>G | ENSP00000242839.4:p.Arg1301Gly | |
| ENST00000344297.8:c.3280A>G | ENSP00000342559.5:p.Arg1094Gly | |
| ENST00000400366.5:c.3568A>G | ENSP00000383217.3:p.Arg1190Gly | |
| ENST00000400370.8:c.2611A>G | ENSP00000383221.3:p.Arg871Gly | |
| ENST00000418097.7:c.3706A>G | ENSP00000393343.2:p.Arg1236Gly | |
| ENST00000448424.6:c.3667A>G | ENSP00000416738.2:p.Arg1223Gly | |
| ENST00000634296.1:c.1679A>G | ||
| ENST00000634308.1:c.*1002A>G | ENSP00000489234.1:n.*1002A>G | |
| ENST00000634620.1:n.4645A>G | ||
| ENST00000634810.1:n.3246A>G | ||
| ENST00000634844.1:c.3757A>G | ENSP00000489398.1:p.Arg1253Gly | |
| NM_000053.3:c.3901A>G | NP_000044.2:p.Arg1301Gly | |
| NM_001005918.2:c.3280A>G | NP_001005918.1:p.Arg1094Gly | |
| NM_001243182.1:c.3568A>G | NP_001230111.1:p.Arg1190Gly | |
| XM_005266423.2:c.3805A>G | XP_005266480.1:p.Arg1269Gly | |
| XM_005266424.3:c.3805A>G | XP_005266481.1:p.Arg1269Gly | |
| XM_005266427.2:c.3667A>G | XP_005266484.1:p.Arg1223Gly | |
| XM_005266428.1:c.3649A>G | XP_005266485.1:p.Arg1217Gly | |
| XM_005266430.3:c.3901A>G | XP_005266487.1:p.Arg1301Gly | |
| XM_005266431.2:c.3865A>G | XP_005266488.1:p.Arg1289Gly | |
| XM_005266432.2:c.3415A>G | XP_005266489.1:p.Arg1139Gly | |
| XM_006719837.2:c.3805A>G | XP_006719900.1:p.Arg1269Gly | |
| XM_006719838.1:c.1717A>G | XP_006719901.1:p.Arg573Gly | |
| XM_006719839.1:c.1534A>G | XP_006719902.1:p.Arg512Gly | |
| XM_011535117.1:c.3805A>G | XP_011533419.1:p.Arg1269Gly | |
| XM_011535118.1:c.3766A>G | XP_011533420.1:p.Arg1256Gly | |
| XM_011535119.1:c.3718A>G | XP_011533421.1:p.Arg1240Gly | |
| XM_011535120.1:c.3487A>G | XP_011533422.1:p.Arg1163Gly | |
| XM_011535121.1:c.3388A>G | XP_011533423.1:p.Arg1130Gly | |
| XM_011535122.1:c.2569A>G | XP_011533424.1:p.Arg857Gly | |
| XR_941601.1:n.4120A>G | ||
| XR_941602.1:n.4120A>G | ||
| XR_941603.1:n.4120A>G | ||
| XR_941604.1:n.4120A>G | ||
| NM_001330578.1:c.3667A>G | NP_001317507.1:p.Arg1223Gly | |
| NM_001330579.1:c.3649A>G | NP_001317508.1:p.Arg1217Gly | |
| XM_005266424.4:c.3805A>G | XP_005266481.1:p.Arg1269Gly | |
| XM_005266430.4:c.3901A>G | XP_005266487.1:p.Arg1301Gly | |
| XM_005266431.4:c.3865A>G | XP_005266488.1:p.Arg1289Gly | |
| XM_006719837.3:c.3805A>G | XP_006719900.1:p.Arg1269Gly | |
| XM_011535117.3:c.3805A>G | XP_011533419.1:p.Arg1269Gly | |
| XM_017020627.1:c.3805A>G | XP_016876116.1:p.Arg1269Gly | |
| NM_000053.4:c.3901A>G MANE Select | NP_000044.2:p.Arg1301Gly | |
| NM_001005918.3:c.3280A>G | NP_001005918.1:p.Arg1094Gly | |
| NM_001330579.2:c.3649A>G | NP_001317508.1:p.Arg1217Gly | |
| NM_001243182.2:c.3568A>G | NP_001230111.1:p.Arg1190Gly | |
| NM_001330578.2:c.3667A>G | NP_001317507.1:p.Arg1223Gly |