Linked Data
ClinVar Variation Id:
1117470
dbSNP Id:
rs755044286
ExAC:
13:52511621 G / A
gnomAD v2:
13-52511621-G-A
gnomAD v3:
13-51937485-G-A
gnomAD v4:
13-51937485-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937485G>A , CM000675.2:g.51937485G>A | GRCh38 |
| NC_000013.10:g.52511621G>A , CM000675.1:g.52511621G>A | GRCh37 |
| NC_000013.9:g.51409622G>A | NCBI36 |
| NG_008806.1:g.79010C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1544C>T | ENSP00000489512.2:n.*1544C>T | |
| ENST00000673864.2:c.*2638C>T | ENSP00000501045.2:n.*2638C>T | |
| ENST00000674147.2:c.3273C>T | ENSP00000500964.2:p.Val1091= | |
| ENST00000242839.10:c.3894C>T MANE Select | ENSP00000242839.5:p.Val1298= | |
| ENST00000344297.9:c.3273C>T | ENSP00000342559.5:p.Val1091= | |
| ENST00000400366.6:c.3561C>T | ENSP00000383217.3:p.Val1187= | |
| ENST00000448424.7:c.3642C>T | ENSP00000416738.3:p.Val1214= | |
| ENST00000673696.1:n.1135C>T | ||
| ENST00000673772.1:c.3660C>T | ENSP00000501168.1:p.Val1220= | |
| ENST00000673867.1:n.4033C>T | ||
| ENST00000673923.1:n.760C>T | ||
| ENST00000674147.1:c.2829C>T | ENSP00000500964.1:p.Val943= | |
| ENST00000242839.8:c.3894C>T | ENSP00000242839.4:p.Val1298= | |
| ENST00000344297.8:c.3273C>T | ENSP00000342559.5:p.Val1091= | |
| ENST00000400366.5:c.3561C>T | ENSP00000383217.3:p.Val1187= | |
| ENST00000400370.8:c.2604C>T | ENSP00000383221.3:p.Val868= | |
| ENST00000418097.7:c.3699C>T | ENSP00000393343.2:p.Val1233= | |
| ENST00000448424.6:c.3660C>T | ENSP00000416738.2:p.Val1220= | |
| ENST00000634296.1:c.1672C>T | ||
| ENST00000634308.1:c.*995C>T | ENSP00000489234.1:n.*995C>T | |
| ENST00000634620.1:n.4638C>T | ||
| ENST00000634810.1:n.3239C>T | ||
| ENST00000634844.1:c.3750C>T | ENSP00000489398.1:p.Val1250= | |
| NM_000053.3:c.3894C>T | NP_000044.2:p.Val1298= | |
| NM_001005918.2:c.3273C>T | NP_001005918.1:p.Val1091= | |
| NM_001243182.1:c.3561C>T | NP_001230111.1:p.Val1187= | |
| XM_005266423.2:c.3798C>T | XP_005266480.1:p.Val1266= | |
| XM_005266424.3:c.3798C>T | XP_005266481.1:p.Val1266= | |
| XM_005266427.2:c.3660C>T | XP_005266484.1:p.Val1220= | |
| XM_005266428.1:c.3642C>T | XP_005266485.1:p.Val1214= | |
| XM_005266430.3:c.3894C>T | XP_005266487.1:p.Val1298= | |
| XM_005266431.2:c.3858C>T | XP_005266488.1:p.Val1286= | |
| XM_005266432.2:c.3408C>T | XP_005266489.1:p.Val1136= | |
| XM_006719837.2:c.3798C>T | XP_006719900.1:p.Val1266= | |
| XM_006719838.1:c.1710C>T | XP_006719901.1:p.Val570= | |
| XM_006719839.1:c.1527C>T | XP_006719902.1:p.Val509= | |
| XM_011535117.1:c.3798C>T | XP_011533419.1:p.Val1266= | |
| XM_011535118.1:c.3759C>T | XP_011533420.1:p.Val1253= | |
| XM_011535119.1:c.3711C>T | XP_011533421.1:p.Val1237= | |
| XM_011535120.1:c.3480C>T | XP_011533422.1:p.Val1160= | |
| XM_011535121.1:c.3381C>T | XP_011533423.1:p.Val1127= | |
| XM_011535122.1:c.2562C>T | XP_011533424.1:p.Val854= | |
| XR_941601.1:n.4113C>T | ||
| XR_941602.1:n.4113C>T | ||
| XR_941603.1:n.4113C>T | ||
| XR_941604.1:n.4113C>T | ||
| NM_001330578.1:c.3660C>T | NP_001317507.1:p.Val1220= | |
| NM_001330579.1:c.3642C>T | NP_001317508.1:p.Val1214= | |
| XM_005266424.4:c.3798C>T | XP_005266481.1:p.Val1266= | |
| XM_005266430.4:c.3894C>T | XP_005266487.1:p.Val1298= | |
| XM_005266431.4:c.3858C>T | XP_005266488.1:p.Val1286= | |
| XM_006719837.3:c.3798C>T | XP_006719900.1:p.Val1266= | |
| XM_011535117.3:c.3798C>T | XP_011533419.1:p.Val1266= | |
| XM_017020627.1:c.3798C>T | XP_016876116.1:p.Val1266= | |
| NM_000053.4:c.3894C>T MANE Select | NP_000044.2:p.Val1298= | |
| NM_001005918.3:c.3273C>T | NP_001005918.1:p.Val1091= | |
| NM_001330579.2:c.3642C>T | NP_001317508.1:p.Val1214= | |
| NM_001243182.2:c.3561C>T | NP_001230111.1:p.Val1187= | |
| NM_001330578.2:c.3660C>T | NP_001317507.1:p.Val1220= |