Linked Data
ClinVar Variation Id:
92389
dbSNP Id:
rs148399850
ExAC:
13:52511626 C / T
gnomAD v2:
13-52511626-C-T
gnomAD v3:
13-51937490-C-T
gnomAD v4:
13-51937490-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937490C>T , CM000675.2:g.51937490C>T | GRCh38 |
| NC_000013.10:g.52511626C>T , CM000675.1:g.52511626C>T | GRCh37 |
| NC_000013.9:g.51409627C>T | NCBI36 |
| NG_008806.1:g.79005G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1539G>A | ENSP00000489512.2:n.*1539G>A | |
| ENST00000673864.2:c.*2633G>A | ENSP00000501045.2:n.*2633G>A | |
| ENST00000674147.2:c.3268G>A | ENSP00000500964.2:p.Val1090Ile | |
| ENST00000242839.10:c.3889G>A MANE Select | ENSP00000242839.5:p.Val1297Ile | |
| ENST00000344297.9:c.3268G>A | ENSP00000342559.5:p.Val1090Ile | |
| ENST00000400366.6:c.3556G>A | ENSP00000383217.3:p.Val1186Ile | |
| ENST00000448424.7:c.3637G>A | ENSP00000416738.3:p.Val1213Ile | |
| ENST00000673696.1:n.1130G>A | ||
| ENST00000673772.1:c.3655G>A | ENSP00000501168.1:p.Val1219Ile | |
| ENST00000673867.1:n.4028G>A | ||
| ENST00000673923.1:n.755G>A | ||
| ENST00000674147.1:c.2824G>A | ENSP00000500964.1:p.Val942Ile | |
| ENST00000242839.8:c.3889G>A | ENSP00000242839.4:p.Val1297Ile | |
| ENST00000344297.8:c.3268G>A | ENSP00000342559.5:p.Val1090Ile | |
| ENST00000400366.5:c.3556G>A | ENSP00000383217.3:p.Val1186Ile | |
| ENST00000400370.8:c.2599G>A | ENSP00000383221.3:p.Val867Ile | |
| ENST00000418097.7:c.3694G>A | ENSP00000393343.2:p.Val1232Ile | |
| ENST00000448424.6:c.3655G>A | ENSP00000416738.2:p.Val1219Ile | |
| ENST00000634296.1:c.1667G>A | ||
| ENST00000634308.1:c.*990G>A | ENSP00000489234.1:n.*990G>A | |
| ENST00000634620.1:n.4633G>A | ||
| ENST00000634810.1:n.3234G>A | ||
| ENST00000634844.1:c.3745G>A | ENSP00000489398.1:p.Val1249Ile | |
| NM_000053.3:c.3889G>A | NP_000044.2:p.Val1297Ile | |
| NM_001005918.2:c.3268G>A | NP_001005918.1:p.Val1090Ile | |
| NM_001243182.1:c.3556G>A | NP_001230111.1:p.Val1186Ile | |
| XM_005266423.2:c.3793G>A | XP_005266480.1:p.Val1265Ile | |
| XM_005266424.3:c.3793G>A | XP_005266481.1:p.Val1265Ile | |
| XM_005266427.2:c.3655G>A | XP_005266484.1:p.Val1219Ile | |
| XM_005266428.1:c.3637G>A | XP_005266485.1:p.Val1213Ile | |
| XM_005266430.3:c.3889G>A | XP_005266487.1:p.Val1297Ile | |
| XM_005266431.2:c.3853G>A | XP_005266488.1:p.Val1285Ile | |
| XM_005266432.2:c.3403G>A | XP_005266489.1:p.Val1135Ile | |
| XM_006719837.2:c.3793G>A | XP_006719900.1:p.Val1265Ile | |
| XM_006719838.1:c.1705G>A | XP_006719901.1:p.Val569Ile | |
| XM_006719839.1:c.1522G>A | XP_006719902.1:p.Val508Ile | |
| XM_011535117.1:c.3793G>A | XP_011533419.1:p.Val1265Ile | |
| XM_011535118.1:c.3754G>A | XP_011533420.1:p.Val1252Ile | |
| XM_011535119.1:c.3706G>A | XP_011533421.1:p.Val1236Ile | |
| XM_011535120.1:c.3475G>A | XP_011533422.1:p.Val1159Ile | |
| XM_011535121.1:c.3376G>A | XP_011533423.1:p.Val1126Ile | |
| XM_011535122.1:c.2557G>A | XP_011533424.1:p.Val853Ile | |
| XR_941601.1:n.4108G>A | ||
| XR_941602.1:n.4108G>A | ||
| XR_941603.1:n.4108G>A | ||
| XR_941604.1:n.4108G>A | ||
| NM_001330578.1:c.3655G>A | NP_001317507.1:p.Val1219Ile | |
| NM_001330579.1:c.3637G>A | NP_001317508.1:p.Val1213Ile | |
| XM_005266424.4:c.3793G>A | XP_005266481.1:p.Val1265Ile | |
| XM_005266430.4:c.3889G>A | XP_005266487.1:p.Val1297Ile | |
| XM_005266431.4:c.3853G>A | XP_005266488.1:p.Val1285Ile | |
| XM_006719837.3:c.3793G>A | XP_006719900.1:p.Val1265Ile | |
| XM_011535117.3:c.3793G>A | XP_011533419.1:p.Val1265Ile | |
| XM_017020627.1:c.3793G>A | XP_016876116.1:p.Val1265Ile | |
| NM_000053.4:c.3889G>A MANE Select | NP_000044.2:p.Val1297Ile | |
| NM_001005918.3:c.3268G>A | NP_001005918.1:p.Val1090Ile | |
| NM_001330579.2:c.3637G>A | NP_001317508.1:p.Val1213Ile | |
| NM_001243182.2:c.3556G>A | NP_001230111.1:p.Val1186Ile | |
| NM_001330578.2:c.3655G>A | NP_001317507.1:p.Val1219Ile |