Linked Data
ClinVar Variation Id:
2719303
ClinVar RCV Id:
RCV003503953
gnomAD v4:
13-51937479-G-A
MyVariant Identifiers:
chr13:g.52511615G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937479G>A , CM000675.2:g.51937479G>A | GRCh38 |
| NC_000013.10:g.52511615G>A , CM000675.1:g.52511615G>A | GRCh37 |
| NC_000013.9:g.51409616G>A | NCBI36 |
| NG_008806.1:g.79016C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1550C>T | ENSP00000489512.2:n.*1550C>T | |
| ENST00000673864.2:c.*2644C>T | ENSP00000501045.2:n.*2644C>T | |
| ENST00000674147.2:c.3279C>T | ENSP00000500964.2:p.Ile1093= | |
| ENST00000242839.10:c.3900C>T MANE Select | ENSP00000242839.5:p.Ile1300= | |
| ENST00000344297.9:c.3279C>T | ENSP00000342559.5:p.Ile1093= | |
| ENST00000400366.6:c.3567C>T | ENSP00000383217.3:p.Ile1189= | |
| ENST00000448424.7:c.3648C>T | ENSP00000416738.3:p.Ile1216= | |
| ENST00000673696.1:n.1141C>T | ||
| ENST00000673772.1:c.3666C>T | ENSP00000501168.1:p.Ile1222= | |
| ENST00000673867.1:n.4039C>T | ||
| ENST00000673923.1:n.766C>T | ||
| ENST00000674147.1:c.2835C>T | ENSP00000500964.1:p.Ile945= | |
| ENST00000242839.8:c.3900C>T | ENSP00000242839.4:p.Ile1300= | |
| ENST00000344297.8:c.3279C>T | ENSP00000342559.5:p.Ile1093= | |
| ENST00000400366.5:c.3567C>T | ENSP00000383217.3:p.Ile1189= | |
| ENST00000400370.8:c.2610C>T | ENSP00000383221.3:p.Ile870= | |
| ENST00000418097.7:c.3705C>T | ENSP00000393343.2:p.Ile1235= | |
| ENST00000448424.6:c.3666C>T | ENSP00000416738.2:p.Ile1222= | |
| ENST00000634296.1:c.1678C>T | ||
| ENST00000634308.1:c.*1001C>T | ENSP00000489234.1:n.*1001C>T | |
| ENST00000634620.1:n.4644C>T | ||
| ENST00000634810.1:n.3245C>T | ||
| ENST00000634844.1:c.3756C>T | ENSP00000489398.1:p.Ile1252= | |
| NM_000053.3:c.3900C>T | NP_000044.2:p.Ile1300= | |
| NM_001005918.2:c.3279C>T | NP_001005918.1:p.Ile1093= | |
| NM_001243182.1:c.3567C>T | NP_001230111.1:p.Ile1189= | |
| XM_005266423.2:c.3804C>T | XP_005266480.1:p.Ile1268= | |
| XM_005266424.3:c.3804C>T | XP_005266481.1:p.Ile1268= | |
| XM_005266427.2:c.3666C>T | XP_005266484.1:p.Ile1222= | |
| XM_005266428.1:c.3648C>T | XP_005266485.1:p.Ile1216= | |
| XM_005266430.3:c.3900C>T | XP_005266487.1:p.Ile1300= | |
| XM_005266431.2:c.3864C>T | XP_005266488.1:p.Ile1288= | |
| XM_005266432.2:c.3414C>T | XP_005266489.1:p.Ile1138= | |
| XM_006719837.2:c.3804C>T | XP_006719900.1:p.Ile1268= | |
| XM_006719838.1:c.1716C>T | XP_006719901.1:p.Ile572= | |
| XM_006719839.1:c.1533C>T | XP_006719902.1:p.Ile511= | |
| XM_011535117.1:c.3804C>T | XP_011533419.1:p.Ile1268= | |
| XM_011535118.1:c.3765C>T | XP_011533420.1:p.Ile1255= | |
| XM_011535119.1:c.3717C>T | XP_011533421.1:p.Ile1239= | |
| XM_011535120.1:c.3486C>T | XP_011533422.1:p.Ile1162= | |
| XM_011535121.1:c.3387C>T | XP_011533423.1:p.Ile1129= | |
| XM_011535122.1:c.2568C>T | XP_011533424.1:p.Ile856= | |
| XR_941601.1:n.4119C>T | ||
| XR_941602.1:n.4119C>T | ||
| XR_941603.1:n.4119C>T | ||
| XR_941604.1:n.4119C>T | ||
| NM_001330578.1:c.3666C>T | NP_001317507.1:p.Ile1222= | |
| NM_001330579.1:c.3648C>T | NP_001317508.1:p.Ile1216= | |
| XM_005266424.4:c.3804C>T | XP_005266481.1:p.Ile1268= | |
| XM_005266430.4:c.3900C>T | XP_005266487.1:p.Ile1300= | |
| XM_005266431.4:c.3864C>T | XP_005266488.1:p.Ile1288= | |
| XM_006719837.3:c.3804C>T | XP_006719900.1:p.Ile1268= | |
| XM_011535117.3:c.3804C>T | XP_011533419.1:p.Ile1268= | |
| XM_017020627.1:c.3804C>T | XP_016876116.1:p.Ile1268= | |
| NM_000053.4:c.3900C>T MANE Select | NP_000044.2:p.Ile1300= | |
| NM_001005918.3:c.3279C>T | NP_001005918.1:p.Ile1093= | |
| NM_001330579.2:c.3648C>T | NP_001317508.1:p.Ile1216= | |
| NM_001243182.2:c.3567C>T | NP_001230111.1:p.Ile1189= | |
| NM_001330578.2:c.3666C>T | NP_001317507.1:p.Ile1222= |