Linked Data
ClinVar Variation Id:
388652
dbSNP Id:
rs377586515
ExAC:
13:52518328 T / G
gnomAD v2:
13-52518328-T-G
gnomAD v3:
13-51944192-T-G
gnomAD v4:
13-51944192-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51944192T>G , CM000675.2:g.51944192T>G | GRCh38 |
| NC_000013.10:g.52518328T>G , CM000675.1:g.52518328T>G | GRCh37 |
| NC_000013.9:g.51416329T>G | NCBI36 |
| NG_008806.1:g.72303A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*894-1638A>C | ENSP00000489512.2:n.*894-1638A>C | |
| ENST00000673864.2:c.*1904A>C | ENSP00000501045.2:n.*1904A>C | |
| ENST00000674147.2:c.2539A>C | ENSP00000500964.2:p.Arg847= | |
| ENST00000242839.10:c.3160A>C MANE Select | ENSP00000242839.5:p.Arg1054= | |
| ENST00000344297.9:c.2539A>C | ENSP00000342559.5:p.Arg847= | |
| ENST00000400366.6:c.2827A>C | ENSP00000383217.3:p.Arg943= | |
| ENST00000448424.7:c.2908A>C | ENSP00000416738.3:p.Arg970= | |
| ENST00000673772.1:c.2926A>C | ENSP00000501168.1:p.Arg976= | |
| ENST00000673867.1:n.3299A>C | ||
| ENST00000674126.1:n.3523A>C | ||
| ENST00000674147.1:c.2095A>C | ENSP00000500964.1:p.Arg699= | |
| ENST00000242839.8:c.3160A>C | ENSP00000242839.4:p.Arg1054= | |
| ENST00000344297.8:c.2539A>C | ENSP00000342559.5:p.Arg847= | |
| ENST00000400366.5:c.2827A>C | ENSP00000383217.3:p.Arg943= | |
| ENST00000400370.8:c.1870A>C | ENSP00000383221.3:p.Arg624= | |
| ENST00000418097.7:c.2965A>C | ENSP00000393343.2:p.Arg989= | |
| ENST00000448424.6:c.2926A>C | ENSP00000416738.2:p.Arg976= | |
| ENST00000466629.1:n.380A>C | ||
| ENST00000634296.1:c.1022-1638A>C | ||
| ENST00000634308.1:c.*261A>C | ENSP00000489234.1:n.*261A>C | |
| ENST00000634620.1:n.3904A>C | ||
| ENST00000634810.1:n.2505A>C | ||
| ENST00000634844.1:c.3016A>C | ENSP00000489398.1:p.Arg1006= | |
| ENST00000635406.1:n.506A>C | ||
| NM_000053.3:c.3160A>C | NP_000044.2:p.Arg1054= | |
| NM_001005918.2:c.2539A>C | NP_001005918.1:p.Arg847= | |
| NM_001243182.1:c.2827A>C | NP_001230111.1:p.Arg943= | |
| XM_005266423.2:c.3064A>C | XP_005266480.1:p.Arg1022= | |
| XM_005266424.3:c.3064A>C | XP_005266481.1:p.Arg1022= | |
| XM_005266427.2:c.2926A>C | XP_005266484.1:p.Arg976= | |
| XM_005266428.1:c.2908A>C | XP_005266485.1:p.Arg970= | |
| XM_005266430.3:c.3160A>C | XP_005266487.1:p.Arg1054= | |
| XM_005266431.2:c.3124A>C | XP_005266488.1:p.Arg1042= | |
| XM_005266432.2:c.2674A>C | XP_005266489.1:p.Arg892= | |
| XM_006719837.2:c.3064A>C | XP_006719900.1:p.Arg1022= | |
| XM_006719838.1:c.976A>C | XP_006719901.1:p.Arg326= | |
| XM_006719839.1:c.877-1638A>C | XP_006719902.1:n.877-1638A>C | |
| XM_011535117.1:c.3064A>C | XP_011533419.1:p.Arg1022= | |
| XM_011535118.1:c.3025A>C | XP_011533420.1:p.Arg1009= | |
| XM_011535119.1:c.3061-1638A>C | XP_011533421.1:n.3061-1638A>C | |
| XM_011535120.1:c.2746A>C | XP_011533422.1:p.Arg916= | |
| XM_011535121.1:c.2731-1638A>C | XP_011533423.1:n.2731-1638A>C | |
| XM_011535122.1:c.1828A>C | XP_011533424.1:p.Arg610= | |
| XR_941601.1:n.3379A>C | ||
| XR_941602.1:n.3379A>C | ||
| XR_941603.1:n.3379A>C | ||
| XR_941604.1:n.3379A>C | ||
| NM_001330578.1:c.2926A>C | NP_001317507.1:p.Arg976= | |
| NM_001330579.1:c.2908A>C | NP_001317508.1:p.Arg970= | |
| XM_005266424.4:c.3064A>C | XP_005266481.1:p.Arg1022= | |
| XM_005266430.4:c.3160A>C | XP_005266487.1:p.Arg1054= | |
| XM_005266431.4:c.3124A>C | XP_005266488.1:p.Arg1042= | |
| XM_006719837.3:c.3064A>C | XP_006719900.1:p.Arg1022= | |
| XM_011535117.3:c.3064A>C | XP_011533419.1:p.Arg1022= | |
| XM_017020627.1:c.3064A>C | XP_016876116.1:p.Arg1022= | |
| NM_000053.4:c.3160A>C MANE Select | NP_000044.2:p.Arg1054= | |
| NM_001005918.3:c.2539A>C | NP_001005918.1:p.Arg847= | |
| NM_001330579.2:c.2908A>C | NP_001317508.1:p.Arg970= | |
| NM_001243182.2:c.2827A>C | NP_001230111.1:p.Arg943= | |
| NM_001330578.2:c.2926A>C | NP_001317507.1:p.Arg976= |