Linked Data
ClinVar Variation Id:
188947
dbSNP Id:
rs786204578
gnomAD v2:
13-52509802-G-A
gnomAD v4:
13-51935666-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51935666G>A , CM000675.2:g.51935666G>A | GRCh38 |
| NC_000013.10:g.52509802G>A , CM000675.1:g.52509802G>A | GRCh37 |
| NC_000013.9:g.51407803G>A | NCBI36 |
| NG_008806.1:g.80829C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1701C>T | ENSP00000489512.2:n.*1701C>T | |
| ENST00000673864.2:c.*2795C>T | ENSP00000501045.2:n.*2795C>T | |
| ENST00000674147.2:c.3430C>T | ENSP00000500964.2:p.Gln1144Ter | |
| ENST00000242839.10:c.4051C>T MANE Select | ENSP00000242839.5:p.Gln1351Ter | |
| ENST00000344297.9:c.3430C>T | ENSP00000342559.5:p.Gln1144Ter | |
| ENST00000400366.6:c.3718C>T | ENSP00000383217.3:p.Gln1240Ter | |
| ENST00000448424.7:c.3799C>T | ENSP00000416738.3:p.Gln1267Ter | |
| ENST00000673696.1:n.1374C>T | ||
| ENST00000673772.1:c.3817C>T | ENSP00000501168.1:p.Gln1273Ter | |
| ENST00000673867.1:n.4190C>T | ||
| ENST00000673923.1:n.917C>T | ||
| ENST00000674147.1:c.2986C>T | ENSP00000500964.1:p.Gln996Ter | |
| ENST00000242839.8:c.4051C>T | ENSP00000242839.4:p.Gln1351Ter | |
| ENST00000344297.8:c.3430C>T | ENSP00000342559.5:p.Gln1144Ter | |
| ENST00000400366.5:c.3718C>T | ENSP00000383217.3:p.Gln1240Ter | |
| ENST00000400370.8:c.2761C>T | ENSP00000383221.3:p.Gln921Ter | |
| ENST00000418097.7:c.3856C>T | ENSP00000393343.2:p.Gln1286Ter | |
| ENST00000448424.6:c.3817C>T | ENSP00000416738.2:p.Gln1273Ter | |
| ENST00000634296.1:c.1829C>T | ||
| ENST00000634308.1:c.*1152C>T | ENSP00000489234.1:n.*1152C>T | |
| ENST00000634620.1:n.4795C>T | ||
| ENST00000634810.1:n.3396C>T | ||
| ENST00000634844.1:c.3907C>T | ENSP00000489398.1:p.Gln1303Ter | |
| NM_000053.3:c.4051C>T | NP_000044.2:p.Gln1351Ter | |
| NM_001005918.2:c.3430C>T | NP_001005918.1:p.Gln1144Ter | |
| NM_001243182.1:c.3718C>T | NP_001230111.1:p.Gln1240Ter | |
| XM_005266423.2:c.3955C>T | XP_005266480.1:p.Gln1319Ter | |
| XM_005266424.3:c.3955C>T | XP_005266481.1:p.Gln1319Ter | |
| XM_005266427.2:c.3817C>T | XP_005266484.1:p.Gln1273Ter | |
| XM_005266428.1:c.3799C>T | XP_005266485.1:p.Gln1267Ter | |
| XM_005266430.3:c.4051C>T | XP_005266487.1:p.Gln1351Ter | |
| XM_005266431.2:c.4015C>T | XP_005266488.1:p.Gln1339Ter | |
| XM_005266432.2:c.3565C>T | XP_005266489.1:p.Gln1189Ter | |
| XM_006719837.2:c.3955C>T | XP_006719900.1:p.Gln1319Ter | |
| XM_006719838.1:c.1867C>T | XP_006719901.1:p.Gln623Ter | |
| XM_006719839.1:c.1684C>T | XP_006719902.1:p.Gln562Ter | |
| XM_011535117.1:c.3955C>T | XP_011533419.1:p.Gln1319Ter | |
| XM_011535118.1:c.3916C>T | XP_011533420.1:p.Gln1306Ter | |
| XM_011535119.1:c.3868C>T | XP_011533421.1:p.Gln1290Ter | |
| XM_011535120.1:c.3637C>T | XP_011533422.1:p.Gln1213Ter | |
| XM_011535121.1:c.3538C>T | XP_011533423.1:p.Gln1180Ter | |
| XM_011535122.1:c.2719C>T | XP_011533424.1:p.Gln907Ter | |
| XR_941601.1:n.4270C>T | ||
| XR_941602.1:n.4270C>T | ||
| XR_941603.1:n.4270C>T | ||
| XR_941604.1:n.4270C>T | ||
| NM_001330578.1:c.3817C>T | NP_001317507.1:p.Gln1273Ter | |
| NM_001330579.1:c.3799C>T | NP_001317508.1:p.Gln1267Ter | |
| XM_005266424.4:c.3955C>T | XP_005266481.1:p.Gln1319Ter | |
| XM_005266430.4:c.4051C>T | XP_005266487.1:p.Gln1351Ter | |
| XM_005266431.4:c.4015C>T | XP_005266488.1:p.Gln1339Ter | |
| XM_006719837.3:c.3955C>T | XP_006719900.1:p.Gln1319Ter | |
| XM_011535117.3:c.3955C>T | XP_011533419.1:p.Gln1319Ter | |
| XM_017020627.1:c.3955C>T | XP_016876116.1:p.Gln1319Ter | |
| NM_000053.4:c.4051C>T MANE Select | NP_000044.2:p.Gln1351Ter | |
| NM_001005918.3:c.3430C>T | NP_001005918.1:p.Gln1144Ter | |
| NM_001330579.2:c.3799C>T | NP_001317508.1:p.Gln1267Ter | |
| NM_001243182.2:c.3718C>T | NP_001230111.1:p.Gln1240Ter | |
| NM_001330578.2:c.3817C>T | NP_001317507.1:p.Gln1273Ter |