Linked Data
ClinVar Variation Id:
2026537
ClinVar RCV Id:
RCV002858414
dbSNP Id:
rs1555285891
gnomAD v2:
13-52516650-T-C
gnomAD v4:
13-51942514-T-C
MyVariant Identifiers:
chr13:g.52516650T>C (hg19)
chr13:g.52516650_52516651delinsCG (hg19)
chr13:g.51942514T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51942514T>C , CM000675.2:g.51942514T>C | GRCh38 |
| NC_000013.10:g.52516650T>C , CM000675.1:g.52516650T>C | GRCh37 |
| NC_000013.9:g.51414651T>C | NCBI36 |
| NG_008806.1:g.73981A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*934A>G | ENSP00000489512.2:n.*934A>G | |
| ENST00000673864.2:c.*2028A>G | ENSP00000501045.2:n.*2028A>G | |
| ENST00000674147.2:c.2663A>G | ENSP00000500964.2:p.Gln888Arg | |
| ENST00000242839.10:c.3284A>G MANE Select | ENSP00000242839.5:p.Gln1095Arg | |
| ENST00000344297.9:c.2663A>G | ENSP00000342559.5:p.Gln888Arg | |
| ENST00000400366.6:c.2951A>G | ENSP00000383217.3:p.Gln984Arg | |
| ENST00000448424.7:c.3032A>G | ENSP00000416738.3:p.Gln1011Arg | |
| ENST00000673772.1:c.3050A>G | ENSP00000501168.1:p.Gln1017Arg | |
| ENST00000673867.1:n.3423A>G | ||
| ENST00000674126.1:n.3647A>G | ||
| ENST00000674147.1:c.2219A>G | ENSP00000500964.1:p.Gln740Arg | |
| ENST00000242839.8:c.3284A>G | ENSP00000242839.4:p.Gln1095Arg | |
| ENST00000344297.8:c.2663A>G | ENSP00000342559.5:p.Gln888Arg | |
| ENST00000400366.5:c.2951A>G | ENSP00000383217.3:p.Gln984Arg | |
| ENST00000400370.8:c.1994A>G | ENSP00000383221.3:p.Gln665Arg | |
| ENST00000418097.7:c.3089A>G | ENSP00000393343.2:p.Gln1030Arg | |
| ENST00000448424.6:c.3050A>G | ENSP00000416738.2:p.Gln1017Arg | |
| ENST00000634296.1:c.1062A>G | ||
| ENST00000634308.1:c.*385A>G | ENSP00000489234.1:n.*385A>G | |
| ENST00000634620.1:n.4028A>G | ||
| ENST00000634810.1:n.2629A>G | ||
| ENST00000634844.1:c.3140A>G | ENSP00000489398.1:p.Gln1047Arg | |
| NM_000053.3:c.3284A>G | NP_000044.2:p.Gln1095Arg | |
| NM_001005918.2:c.2663A>G | NP_001005918.1:p.Gln888Arg | |
| NM_001243182.1:c.2951A>G | NP_001230111.1:p.Gln984Arg | |
| XM_005266423.2:c.3188A>G | XP_005266480.1:p.Gln1063Arg | |
| XM_005266424.3:c.3188A>G | XP_005266481.1:p.Gln1063Arg | |
| XM_005266427.2:c.3050A>G | XP_005266484.1:p.Gln1017Arg | |
| XM_005266428.1:c.3032A>G | XP_005266485.1:p.Gln1011Arg | |
| XM_005266430.3:c.3284A>G | XP_005266487.1:p.Gln1095Arg | |
| XM_005266431.2:c.3248A>G | XP_005266488.1:p.Gln1083Arg | |
| XM_005266432.2:c.2798A>G | XP_005266489.1:p.Gln933Arg | |
| XM_006719837.2:c.3188A>G | XP_006719900.1:p.Gln1063Arg | |
| XM_006719838.1:c.1100A>G | XP_006719901.1:p.Gln367Arg | |
| XM_006719839.1:c.917A>G | XP_006719902.1:p.Gln306Arg | |
| XM_011535117.1:c.3188A>G | XP_011533419.1:p.Gln1063Arg | |
| XM_011535118.1:c.3149A>G | XP_011533420.1:p.Gln1050Arg | |
| XM_011535119.1:c.3101A>G | XP_011533421.1:p.Gln1034Arg | |
| XM_011535120.1:c.2870A>G | XP_011533422.1:p.Gln957Arg | |
| XM_011535121.1:c.2771A>G | XP_011533423.1:p.Gln924Arg | |
| XM_011535122.1:c.1952A>G | XP_011533424.1:p.Gln651Arg | |
| XR_941601.1:n.3503A>G | ||
| XR_941602.1:n.3503A>G | ||
| XR_941603.1:n.3503A>G | ||
| XR_941604.1:n.3503A>G | ||
| NM_001330578.1:c.3050A>G | NP_001317507.1:p.Gln1017Arg | |
| NM_001330579.1:c.3032A>G | NP_001317508.1:p.Gln1011Arg | |
| XM_005266424.4:c.3188A>G | XP_005266481.1:p.Gln1063Arg | |
| XM_005266430.4:c.3284A>G | XP_005266487.1:p.Gln1095Arg | |
| XM_005266431.4:c.3248A>G | XP_005266488.1:p.Gln1083Arg | |
| XM_006719837.3:c.3188A>G | XP_006719900.1:p.Gln1063Arg | |
| XM_011535117.3:c.3188A>G | XP_011533419.1:p.Gln1063Arg | |
| XM_017020627.1:c.3188A>G | XP_016876116.1:p.Gln1063Arg | |
| NM_000053.4:c.3284A>G MANE Select | NP_000044.2:p.Gln1095Arg | |
| NM_001005918.3:c.2663A>G | NP_001005918.1:p.Gln888Arg | |
| NM_001330579.2:c.3032A>G | NP_001317508.1:p.Gln1011Arg | |
| NM_001243182.2:c.2951A>G | NP_001230111.1:p.Gln984Arg | |
| NM_001330578.2:c.3050A>G | NP_001317507.1:p.Gln1017Arg |