Linked Data
ClinVar Variation Id:
1162215
ClinVar RCV Id:
RCV001506989
dbSNP Id:
rs2138775370
gnomAD v4:
13-51941090-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51941090C>T , CM000675.2:g.51941090C>T | GRCh38 |
| NC_000013.10:g.52515226C>T , CM000675.1:g.52515226C>T | GRCh37 |
| NC_000013.9:g.51413227C>T | NCBI36 |
| NG_008806.1:g.75405G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1197G>A | ENSP00000489512.2:n.*1197G>A | |
| ENST00000673864.2:c.*2291G>A | ENSP00000501045.2:n.*2291G>A | |
| ENST00000674147.2:c.2926G>A | ENSP00000500964.2:p.Ala976Thr | |
| ENST00000242839.10:c.3547G>A MANE Select | ENSP00000242839.5:p.Ala1183Thr | |
| ENST00000344297.9:c.2926G>A | ENSP00000342559.5:p.Ala976Thr | |
| ENST00000400366.6:c.3214G>A | ENSP00000383217.3:p.Ala1072Thr | |
| ENST00000448424.7:c.3295G>A | ENSP00000416738.3:p.Ala1099Thr | |
| ENST00000673772.1:c.3313G>A | ENSP00000501168.1:p.Ala1105Thr | |
| ENST00000673867.1:n.3686G>A | ||
| ENST00000674126.1:n.3910G>A | ||
| ENST00000674147.1:c.2482G>A | ENSP00000500964.1:p.Ala828Thr | |
| ENST00000242839.8:c.3547G>A | ENSP00000242839.4:p.Ala1183Thr | |
| ENST00000344297.8:c.2926G>A | ENSP00000342559.5:p.Ala976Thr | |
| ENST00000400366.5:c.3214G>A | ENSP00000383217.3:p.Ala1072Thr | |
| ENST00000400370.8:c.2257G>A | ENSP00000383221.3:p.Ala753Thr | |
| ENST00000418097.7:c.3352G>A | ENSP00000393343.2:p.Ala1118Thr | |
| ENST00000448424.6:c.3313G>A | ENSP00000416738.2:p.Ala1105Thr | |
| ENST00000634296.1:c.1325G>A | ||
| ENST00000634308.1:c.*648G>A | ENSP00000489234.1:n.*648G>A | |
| ENST00000634620.1:n.4291G>A | ||
| ENST00000634810.1:n.2892G>A | ||
| ENST00000634844.1:c.3403G>A | ENSP00000489398.1:p.Ala1135Thr | |
| NM_000053.3:c.3547G>A | NP_000044.2:p.Ala1183Thr | |
| NM_001005918.2:c.2926G>A | NP_001005918.1:p.Ala976Thr | |
| NM_001243182.1:c.3214G>A | NP_001230111.1:p.Ala1072Thr | |
| XM_005266423.2:c.3451G>A | XP_005266480.1:p.Ala1151Thr | |
| XM_005266424.3:c.3451G>A | XP_005266481.1:p.Ala1151Thr | |
| XM_005266427.2:c.3313G>A | XP_005266484.1:p.Ala1105Thr | |
| XM_005266428.1:c.3295G>A | XP_005266485.1:p.Ala1099Thr | |
| XM_005266430.3:c.3547G>A | XP_005266487.1:p.Ala1183Thr | |
| XM_005266431.2:c.3511G>A | XP_005266488.1:p.Ala1171Thr | |
| XM_005266432.2:c.3061G>A | XP_005266489.1:p.Ala1021Thr | |
| XM_006719837.2:c.3451G>A | XP_006719900.1:p.Ala1151Thr | |
| XM_006719838.1:c.1363G>A | XP_006719901.1:p.Ala455Thr | |
| XM_006719839.1:c.1180G>A | XP_006719902.1:p.Ala394Thr | |
| XM_011535117.1:c.3451G>A | XP_011533419.1:p.Ala1151Thr | |
| XM_011535118.1:c.3412G>A | XP_011533420.1:p.Ala1138Thr | |
| XM_011535119.1:c.3364G>A | XP_011533421.1:p.Ala1122Thr | |
| XM_011535120.1:c.3133G>A | XP_011533422.1:p.Ala1045Thr | |
| XM_011535121.1:c.3034G>A | XP_011533423.1:p.Ala1012Thr | |
| XM_011535122.1:c.2215G>A | XP_011533424.1:p.Ala739Thr | |
| XR_941601.1:n.3766G>A | ||
| XR_941602.1:n.3766G>A | ||
| XR_941603.1:n.3766G>A | ||
| XR_941604.1:n.3766G>A | ||
| NM_001330578.1:c.3313G>A | NP_001317507.1:p.Ala1105Thr | |
| NM_001330579.1:c.3295G>A | NP_001317508.1:p.Ala1099Thr | |
| XM_005266424.4:c.3451G>A | XP_005266481.1:p.Ala1151Thr | |
| XM_005266430.4:c.3547G>A | XP_005266487.1:p.Ala1183Thr | |
| XM_005266431.4:c.3511G>A | XP_005266488.1:p.Ala1171Thr | |
| XM_006719837.3:c.3451G>A | XP_006719900.1:p.Ala1151Thr | |
| XM_011535117.3:c.3451G>A | XP_011533419.1:p.Ala1151Thr | |
| XM_017020627.1:c.3451G>A | XP_016876116.1:p.Ala1151Thr | |
| NM_000053.4:c.3547G>A MANE Select | NP_000044.2:p.Ala1183Thr | |
| NM_001005918.3:c.2926G>A | NP_001005918.1:p.Ala976Thr | |
| NM_001330579.2:c.3295G>A | NP_001317508.1:p.Ala1099Thr | |
| NM_001243182.2:c.3214G>A | NP_001230111.1:p.Ala1072Thr | |
| NM_001330578.2:c.3313G>A | NP_001317507.1:p.Ala1105Thr |